Canonical Allele Identifier: CA217120562
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs34218295
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5232994_5232996del , CM000673.2:g.5232994_5232996del GRCh38
NC_000011.9:g.5254224_5254226del , CM000673.1:g.5254224_5254226del GRCh37
NC_000011.8:g.5210800_5210802del NCBI36
NG_000007.3:g.64621_64623del
NG_063112.2:g.15663_15665del

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.413_415del ENSP00000494708.1:p.Val138del
ENST00000650601.1:c.413_415del MANE Select ENSP00000497529.1:p.Val138del
ENST00000292901.7:c.316-197_316-195del ENSP00000292901.3:n.316-197_316-195del
ENST00000380299.3:c.413_415del ENSP00000369654.3:p.Val138del
ENST00000417377.1:c.190_192del ENSP00000414741.1:p.Trp64del
NM_000519.3:c.413_415del NP_000510.1:p.Val138del
NM_000519.4:c.413_415del MANE Select NP_000510.1:p.Val138del
Search 100 bp 5'
Search 100 bp 3'