Canonical Allele Identifier: CA913190231

Gene: HBB

Linked Data

• ClinVar Variation Id: 633259
• ClinVar RCV Id: RCV000781448
• dbSNP Id: rs1564874493

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225898_5225899del , CM000673.2:g.5225898_5225899del	GRCh38
NC_000011.9:g.5247128_5247129del , CM000673.1:g.5247128_5247129del	GRCh37
NC_000011.8:g.5203704_5203705del	NCBI36
NG_000007.3:g.71719_71720del
NG_059281.1:g.6175_6176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-171_316-170del	ENSP00000494175.1:n.316-171_316-170del
ENST00000335295.4:c.316-171_316-170del MANE Select	ENSP00000333994.3:n.316-171_316-170del
ENST00000475226.1:n.248-171_248-170del
ENST00000633227.1:c.*132-171_*132-170del	ENSP00000488004.1:n.*132-171_*132-170del
NM_000518.4:c.316-171_316-170del	NP_000509.1:n.316-171_316-170del
NM_000518.5:c.316-171_316-170del MANE Select	NP_000509.1:n.316-171_316-170del