Canonical Allele Identifier: CA1949565324

Gene: HBD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234170_5234171delinsAG , CM000673.2:g.5234170_5234171delinsAG	GRCh38
NC_000011.9:g.5255400_5255401delinsAG , CM000673.1:g.5255400_5255401delinsAG	GRCh37
NC_000011.8:g.5211976_5211977delinsAG	NCBI36
NG_000007.3:g.63445_63446delinsCT
NG_063112.2:g.14487_14488delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.135_136delinsCT	ENSP00000494708.1:p.Ser45=
ENST00000650601.1:c.135_136delinsCT MANE Select	ENSP00000497529.1:p.Ser45=
ENST00000292901.7:c.135_136delinsCT	ENSP00000292901.3:p.Ser45=
ENST00000380299.3:c.135_136delinsCT	ENSP00000369654.3:p.Ser45=
ENST00000417377.1:c.92+171_92+172delinsCT	ENSP00000414741.1:n.92+171_92+172delinsCT...
ENST00000429817.1:c.135_136delinsCT	ENSP00000393810.1:p.Ser45=
NM_000519.3:c.135_136delinsCT	NP_000510.1:p.Ser45=
NM_000519.4:c.135_136delinsCT MANE Select	NP_000510.1:p.Ser45=