Canonical Allele Identifier: CA1949566010

Gene: HBD

Linked Data

• dbSNP Id: rs1847716773

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234475del , CM000673.2:g.5234475del	GRCh38
NC_000011.9:g.5255705del , CM000673.1:g.5255705del	GRCh37
NC_000011.8:g.5212281del	NCBI36
NG_000007.3:g.63142del
NG_063112.2:g.14184del

Transcript Alleles

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