Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
-/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC... Click the plus to show all of the alleles
Location

Chromosome 17: between 63488529 and 63488530 (forward strand) | View in location tab

Most severe consequence
Evidence status

This variation has 13 HGVS names - click the plus to show

17:g.63488529_63488530insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
ENST00000582005.4:c.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
ENST00000578839.4:c.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
ENST00000584865.4:n.252-105_252-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
ENST00000428043.4:c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
ENST00000290866.7:c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
ENST00000582761.1:c.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
ENST00000579314.4:c.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
ENST00000579204.1:c.*376-27_*376-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
ENST00000290863.9:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
ENST00000577647.2:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
ENST00000413513.6:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
ENST00000421982.5:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT

About this variant

This variant overlaps 18 transcripts, is associated with 1 phenotype and is mentioned in 47 citations.

Variation displays