Canonical Allele Identifier: CA1801528478
Gene: CALB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083236_90083245delinsTCACATAAAA , CM000670.2:g.90083236_90083245delinsTCACATAAAA GRCh38
NC_000008.10:g.91095464_91095473delinsTCACATAAAA , CM000670.1:g.91095464_91095473delinsTCACATAAAA GRCh37
NC_000008.9:g.91164640_91164649delinsTCACATAAAA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000514406.2:c.-92-1143_-92-1134delinsTTTTATGTGA ENSP00000430192.1:n.-92-1143_-92-1134delinsTTTTATGTGA
ENST00000520613.5:c.-92-1143_-92-1134delinsTTTTATGTGA ENSP00000430281.1:n.-92-1143_-92-1134delinsTTTTATGTGA
ENST00000523716.5:c.-92-1143_-92-1134delinsTTTTATGTGA ENSP00000429246.1:n.-92-1143_-92-1134delinsTTTTATGTGA
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