Canonical Allele Identifier: CA1116468038

Gene: CALB1

Linked Data

• gnomAD v3: 8-90083295-G-GAA
• gnomAD v4: 8-90083295-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.90083305_90083306dup , CM000670.2:g.90083305_90083306dup	GRCh38
NC_000008.10:g.91095533_91095534dup , CM000670.1:g.91095533_91095534dup	GRCh37
NC_000008.9:g.91164709_91164710dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000514406.2:c.-92-1195_-92-1194dup	ENSP00000430192.1:n.-92-1195_-92-1194dup
ENST00000520613.5:c.-92-1195_-92-1194dup	ENSP00000430281.1:n.-92-1195_-92-1194dup
ENST00000523716.5:c.-92-1195_-92-1194dup	ENSP00000429246.1:n.-92-1195_-92-1194dup