Canonical Allele Identifier: CA788486621
Gene:

Linked Data

dbSNP Id: rs1476773260

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559839del , CM000666.2:g.144559839del GRCh38
NC_000004.11:g.145480991del , CM000666.1:g.145480991del GRCh37
NC_000004.10:g.145700441del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143859del ENSP00000497507.1:n.328-143859del
XR_939272.1:n.178+2147del
XR_939273.1:n.178+2147del
XR_939272.2:n.522+2147del
XR_939273.2:n.522+2147del