Canonical Allele Identifier: CA583564001
Gene: CALB1 HGNC NCBI

Linked Data

dbSNP Id: rs1203536431
gnomAD v2: 8-91095479-TTA-T
gnomAD v3: 8-90083251-TTA-T
gnomAD v4: 8-90083251-TTA-T
MyVariant Identifiers: chr8:g.91095480_91095481del (hg19) chr8:g.90083252_90083253del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083255_90083256del , CM000670.2:g.90083255_90083256del GRCh38
NC_000008.10:g.91095483_91095484del , CM000670.1:g.91095483_91095484del GRCh37
NC_000008.9:g.91164659_91164660del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000514406.2:c.-92-1151_-92-1150del ENSP00000430192.1:n.-92-1151_-92-1150del
ENST00000520613.5:c.-92-1151_-92-1150del ENSP00000430281.1:n.-92-1151_-92-1150del
ENST00000523716.5:c.-92-1151_-92-1150del ENSP00000429246.1:n.-92-1151_-92-1150del
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