Canonical Allele Identifier: CA1500737677
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559415_144559418delinsCTCT , CM000666.2:g.144559415_144559418delinsCTCT GRCh38
NC_000004.11:g.145480567_145480570delinsCTCT , CM000666.1:g.145480567_145480570delinsCTCT GRCh37
NC_000004.10:g.145700017_145700020delinsCTCT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143440_328-143437delinsAGAG ENSP00000497507.1:n.328-143440_328-143437delinsAGAG
XR_939272.1:n.178+2566_178+2569delinsAGAG
XR_939273.1:n.178+2566_178+2569delinsAGAG
XR_939272.2:n.522+2566_522+2569delinsAGAG
XR_939273.2:n.522+2566_522+2569delinsAGAG