Canonical Allele Identifier: CA788486239
Gene:

Linked Data

dbSNP Id: rs1219269185

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559261del , CM000666.2:g.144559261del GRCh38
NC_000004.11:g.145480413del , CM000666.1:g.145480413del GRCh37
NC_000004.10:g.145699863del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143279del ENSP00000497507.1:n.328-143279del
XR_939272.1:n.178+2727del
XR_939273.1:n.178+2727del
XR_939272.2:n.522+2727del
XR_939273.2:n.522+2727del