Canonical Allele Identifier: CA2605359025

Gene:

Linked Data

• gnomAD v3: 4-144559904-TA-T
• gnomAD v4: 4-144559904-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559910del , CM000666.2:g.144559910del	GRCh38
NC_000004.11:g.145481062del , CM000666.1:g.145481062del	GRCh37
NC_000004.10:g.145700512del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143927del	ENSP00000497507.1:n.328-143927del
XR_939272.1:n.178+2079del
XR_939273.1:n.178+2079del
XR_939272.2:n.522+2079del
XR_939273.2:n.522+2079del