Canonical Allele Identifier: CA1949564940
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs1847703632
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234024_5234025insTTTTA , CM000673.2:g.5234024_5234025insTTTTA GRCh38
NC_000011.9:g.5255254_5255255insTTTTA , CM000673.1:g.5255254_5255255insTTTTA GRCh37
NC_000011.8:g.5211830_5211831insTTTTA NCBI36
NG_000007.3:g.63592_63593insAAAAT
NG_063112.2:g.14634_14635insAAAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.282_283insAAAAT ENSP00000494708.1:p.Asp95LysfsTer?
ENST00000650601.1:c.282_283insAAAAT MANE Select ENSP00000497529.1:p.Asp95LysfsTer?
ENST00000292901.7:c.282_283insAAAAT ENSP00000292901.3:p.Asp95LysfsTer24
ENST00000380299.3:c.282_283insAAAAT ENSP00000369654.3:p.Asp95LysfsTer?
ENST00000417377.1:c.92+318_92+319insAAAAT ENSP00000414741.1:n.92+318_92+319insAAAAT
ENST00000429817.1:c.282_283insAAAAT ENSP00000393810.1:p.Asp95LysfsTer?
NM_000519.3:c.282_283insAAAAT NP_000510.1:p.Asp95LysfsTer?
NM_000519.4:c.282_283insAAAAT MANE Select NP_000510.1:p.Asp95LysfsTer?
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