Canonical Allele Identifier: CA1116468016

Gene: CALB1

Linked Data

• gnomAD v3: 8-90083287-ATTTGTTTG-A
• gnomAD v4: 8-90083287-ATTTGTTTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.90083288_90083295del , CM000670.2:g.90083288_90083295del	GRCh38
NC_000008.10:g.91095516_91095523del , CM000670.1:g.91095516_91095523del	GRCh37
NC_000008.9:g.91164692_91164699del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000514406.2:c.-92-1193_-92-1186del	ENSP00000430192.1:n.-92-1193_-92-1186del
ENST00000520613.5:c.-92-1193_-92-1186del	ENSP00000430281.1:n.-92-1193_-92-1186del
ENST00000523716.5:c.-92-1193_-92-1186del	ENSP00000429246.1:n.-92-1193_-92-1186del