Canonical Allele Identifier: CA1116468010
Gene: CALB1 HGNC NCBI

Linked Data

gnomAD v3: 8-90083283-C-A
gnomAD v4: 8-90083283-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083283C>A , CM000670.2:g.90083283C>A GRCh38
NC_000008.10:g.91095511C>A , CM000670.1:g.91095511C>A GRCh37
NC_000008.9:g.91164687C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000514406.2:c.-92-1181G>T ENSP00000430192.1:n.-92-1181G>T
ENST00000520613.5:c.-92-1181G>T ENSP00000430281.1:n.-92-1181G>T
ENST00000523716.5:c.-92-1181G>T ENSP00000429246.1:n.-92-1181G>T
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