Canonical Allele Identifier: CA1138946765

Gene:

Linked Data

• gnomAD v3: Y-8734219-CT-C
• gnomAD v4: Y-8734219-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.8734220del , CM000686.2:g.8734220del	GRCh38
NC_000024.9:g.8602261del , CM000686.1:g.8602261del	GRCh37
NC_000024.8:g.8662261del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623558.1:c.197-5610del	ENSP00000485446.1:n.197-5610del
ENST00000624237.1:c.64-7835del	ENSP00000485137.1:n.64-7835del
ENST00000624593.1:c.-57+14496del	ENSP00000485106.1:n.-57+14496del