Canonical Allele Identifier: CA181687823
Gene: CALB1 HGNC NCBI

Linked Data

dbSNP Id: rs199954902
gnomAD v2: 8-91095523-GA-G
gnomAD v3: 8-90083295-GA-G
gnomAD v4: 8-90083295-GA-G
MyVariant Identifiers: chr8:g.91095524del (hg19) chr8:g.90083296del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083306del , CM000670.2:g.90083306del GRCh38
NC_000008.10:g.91095534del , CM000670.1:g.91095534del GRCh37
NC_000008.9:g.91164710del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000514406.2:c.-92-1194del ENSP00000430192.1:n.-92-1194del
ENST00000520613.5:c.-92-1194del ENSP00000430281.1:n.-92-1194del
ENST00000523716.5:c.-92-1194del ENSP00000429246.1:n.-92-1194del
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