Canonical Allele Identifier: CA1949566009

Gene: HBD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234473_5234474delinsGA , CM000673.2:g.5234473_5234474delinsGA	GRCh38
NC_000011.9:g.5255703_5255704delinsGA , CM000673.1:g.5255703_5255704delinsGA	GRCh37
NC_000011.8:g.5212279_5212280delinsGA	NCBI36
NG_000007.3:g.63142_63143delinsTC
NG_063112.2:g.14184_14185delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.-28-13_-28-12delinsTC	ENSP00000494708.1:n.-28-13_-28-12delinsTC...
ENST00000650601.1:c.-41_-40delinsTC MANE Select	ENSP00000497529.1:n.-41_-40delinsTC
ENST00000292901.7:c.-41_-40delinsTC	ENSP00000292901.3:n.-41_-40delinsTC
ENST00000380299.3:c.-41_-40delinsTC	ENSP00000369654.3:n.-41_-40delinsTC
ENST00000417377.1:c.-41_-40delinsTC	ENSP00000414741.1:n.-41_-40delinsTC
ENST00000429817.1:c.-41_-40delinsTC	ENSP00000393810.1:n.-41_-40delinsTC
NM_000519.3:c.-41_-40delinsTC	NP_000510.1:n.-41_-40delinsTC
NM_000519.4:c.-41_-40delinsTC MANE Select	NP_000510.1:n.-41_-40delinsTC