Canonical Allele Identifier: CA1500737737
Gene:

Linked Data

dbSNP Id: rs1733825522

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559459del , CM000666.2:g.144559459del GRCh38
NC_000004.11:g.145480611del , CM000666.1:g.145480611del GRCh37
NC_000004.10:g.145700061del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143481del ENSP00000497507.1:n.328-143481del
XR_939272.1:n.178+2525del
XR_939273.1:n.178+2525del
XR_939272.2:n.522+2525del
XR_939273.2:n.522+2525del