Canonical Allele Identifier: CA2781238514
Gene: CALB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083203C>T , CM000670.2:g.90083203C>T GRCh38
NC_000008.10:g.91095431C>T , CM000670.1:g.91095431C>T GRCh37
NC_000008.9:g.91164607C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000514406.2:c.-92-1101G>A ENSP00000430192.1:n.-92-1101G>A
ENST00000520613.5:c.-92-1101G>A ENSP00000430281.1:n.-92-1101G>A
ENST00000523716.5:c.-92-1101G>A ENSP00000429246.1:n.-92-1101G>A
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