Canonical Allele Identifier: CA653938474

Gene: HBD

Linked Data

• COSMIC: COSN20077328

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234573_5234574insA , CM000673.2:g.5234573_5234574insA	GRCh38
NC_000011.9:g.5255803_5255804insA , CM000673.1:g.5255803_5255804insA	GRCh37
NC_000011.8:g.5212379_5212380insA	NCBI36
NG_000007.3:g.63042_63043insT
NG_063112.2:g.14084_14085insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.-28-113_-28-112insT	ENSP00000494708.1:n.-28-113_-28-112insT
ENST00000380299.3:c.-141_-140insT	ENSP00000369654.3:n.-141_-140insT
ENST00000429817.1:c.-97-44_-97-43insT	ENSP00000393810.1:n.-97-44_-97-43insT
NM_000519.3:c.-141_-140insT	NP_000510.1:n.-141_-140insT