Canonical Allele Identifier: CA1949564595

Gene: HBD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5233780_5233784delinsAAGAC , CM000673.2:g.5233780_5233784delinsAAGAC	GRCh38
NC_000011.9:g.5255010_5255014delinsAAGAC , CM000673.1:g.5255010_5255014delinsAAGAC	GRCh37
NC_000011.8:g.5211586_5211590delinsAAGAC	NCBI36
NG_000007.3:g.63832_63836delinsGTCTT
NG_063112.2:g.14874_14878delinsGTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.315+207_315+211delinsGTCTT	ENSP00000494708.1:n.315+207_315+211delinsGTCTT
ENST00000650601.1:c.315+207_315+211delinsGTCTT MANE Select	ENSP00000497529.1:n.315+207_315+211delinsGTCTT
ENST00000292901.7:c.315+207_315+211delinsGTCTT	ENSP00000292901.3:n.315+207_315+211delinsGTCTT
ENST00000380299.3:c.315+207_315+211delinsGTCTT	ENSP00000369654.3:n.315+207_315+211delinsGTCTT
ENST00000417377.1:c.92+558_92+562delinsGTCTT	ENSP00000414741.1:n.92+558_92+562delinsGTCTT
NM_000519.3:c.315+207_315+211delinsGTCTT	NP_000510.1:n.315+207_315+211delinsGTCTT
NM_000519.4:c.315+207_315+211delinsGTCTT MANE Select	NP_000510.1:n.315+207_315+211delinsGTCTT