Canonical Allele Identifier: CA2574735684

Gene: HBD

Linked Data

• gnomAD v4: 11-5234463-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234463_5234464insA , CM000673.2:g.5234463_5234464insA	GRCh38
NC_000011.9:g.5255693_5255694insA , CM000673.1:g.5255693_5255694insA	GRCh37
NC_000011.8:g.5212269_5212270insA	NCBI36
NG_000007.3:g.63152_63153insT
NG_063112.2:g.14194_14195insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.-28-3_-28-2insT	ENSP00000494708.1:n.-28-3_-28-2insT
ENST00000650601.1:c.-31_-30insT MANE Select	ENSP00000497529.1:n.-31_-30insT
ENST00000292901.7:c.-31_-30insT	ENSP00000292901.3:n.-31_-30insT
ENST00000380299.3:c.-31_-30insT	ENSP00000369654.3:n.-31_-30insT
ENST00000417377.1:c.-31_-30insT	ENSP00000414741.1:n.-31_-30insT
ENST00000429817.1:c.-31_-30insT	ENSP00000393810.1:n.-31_-30insT
NM_000519.3:c.-31_-30insT	NP_000510.1:n.-31_-30insT
NM_000519.4:c.-31_-30insT MANE Select	NP_000510.1:n.-31_-30insT