Canonical Allele Identifier: CA2695213020

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225695del , CM000673.2:g.5225695del	GRCh38
NC_000011.9:g.5246925del , CM000673.1:g.5246925del	GRCh37
NC_000011.8:g.5203501del	NCBI36
NG_000007.3:g.71923del
NG_059281.1:g.6379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.349del	ENSP00000494175.1:p.His117IlefsTer?
ENST00000335295.4:c.349del MANE Select	ENSP00000333994.3:p.His117IlefsTer?
ENST00000475226.1:n.281del
ENST00000633227.1:c.*165del	ENSP00000488004.1:n.*165del
NM_000518.4:c.349del	NP_000509.1:p.His117IlefsTer?
NM_000518.5:c.349del MANE Select	NP_000509.1:p.His117IlefsTer?