Canonical Allele Identifier: CA1500737491
Gene:

Linked Data

dbSNP Id: rs1733819650

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559217_144559219del , CM000666.2:g.144559217_144559219del GRCh38
NC_000004.11:g.145480369_145480371del , CM000666.1:g.145480369_145480371del GRCh37
NC_000004.10:g.145699819_145699821del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143241_328-143239del ENSP00000497507.1:n.328-143241_328-143239del
XR_939272.1:n.178+2765_178+2767del
XR_939273.1:n.178+2765_178+2767del
XR_939272.2:n.522+2765_522+2767del
XR_939273.2:n.522+2765_522+2767del