Canonical Allele Identifier: CA181687812
Gene: CALB1 HGNC NCBI

Linked Data

dbSNP Id: rs200495549
gnomAD v2: 8-91095421-T-TTTAA
gnomAD v3: 8-90083193-T-TTTAA
gnomAD v4: 8-90083193-T-TTTAA
MyVariant Identifiers: chr8:g.91095421_91095422insTTAA (hg19) chr8:g.90083193_90083194insTTAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083194_90083197dup , CM000670.2:g.90083194_90083197dup GRCh38
NC_000008.10:g.91095422_91095425dup , CM000670.1:g.91095422_91095425dup GRCh37
NC_000008.9:g.91164598_91164601dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000514406.2:c.-92-1095_-92-1092dup ENSP00000430192.1:n.-92-1095_-92-1092dup
ENST00000520613.5:c.-92-1095_-92-1092dup ENSP00000430281.1:n.-92-1095_-92-1092dup
ENST00000523716.5:c.-92-1095_-92-1092dup ENSP00000429246.1:n.-92-1095_-92-1092dup
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