Canonical Allele Identifier: CA1949564761

Gene: HBD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5233940_5233941delinsAT , CM000673.2:g.5233940_5233941delinsAT	GRCh38
NC_000011.9:g.5255170_5255171delinsAT , CM000673.1:g.5255170_5255171delinsAT	GRCh37
NC_000011.8:g.5211746_5211747delinsAT	NCBI36
NG_000007.3:g.63675_63676delinsAT
NG_063112.2:g.14717_14718delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.315+50_315+51delinsAT	ENSP00000494708.1:n.315+50_315+51delinsAT
ENST00000650601.1:c.315+50_315+51delinsAT MANE Select	ENSP00000497529.1:n.315+50_315+51delinsAT
ENST00000292901.7:c.315+50_315+51delinsAT	ENSP00000292901.3:n.315+50_315+51delinsAT
ENST00000380299.3:c.315+50_315+51delinsAT	ENSP00000369654.3:n.315+50_315+51delinsAT
ENST00000417377.1:c.92+401_92+402delinsAT	ENSP00000414741.1:n.92+401_92+402delinsAT
NM_000519.3:c.315+50_315+51delinsAT	NP_000510.1:n.315+50_315+51delinsAT
NM_000519.4:c.315+50_315+51delinsAT MANE Select	NP_000510.1:n.315+50_315+51delinsAT