Canonical Allele Identifier: CA2562716704
Gene: CALB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083177T>G , CM000670.2:g.90083177T>G GRCh38
NC_000008.10:g.91095405T>G , CM000670.1:g.91095405T>G GRCh37
NC_000008.9:g.91164581T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000514406.2:c.-92-1075A>C ENSP00000430192.1:n.-92-1075A>C
ENST00000520613.5:c.-92-1075A>C ENSP00000430281.1:n.-92-1075A>C
ENST00000523716.5:c.-92-1075A>C ENSP00000429246.1:n.-92-1075A>C
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