Canonical Allele Identifier: CA2573147132
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1617500
ClinVar RCV Id: RCV002079292
dbSNP Id: rs2133587112
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226188_5226189insTATT , CM000673.2:g.5226188_5226189insTATT GRCh38
NC_000011.9:g.5247418_5247419insTATT , CM000673.1:g.5247418_5247419insTATT GRCh37
NC_000011.8:g.5203994_5203995insTATT NCBI36
NG_000007.3:g.71427_71428insAATA
NG_059281.1:g.5883_5884insAATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+388_315+389insAATA ENSP00000494175.1:n.315+388_315+389insAATA
ENST00000335295.4:c.315+388_315+389insAATA MANE Select ENSP00000333994.3:n.315+388_315+389insAATA
ENST00000475226.1:n.247+388_247+389insAATA
ENST00000633227.1:c.*131+388_*131+389insAATA ENSP00000488004.1:n.*131+388_*131+389insAATA
NM_000518.4:c.315+388_315+389insAATA NP_000509.1:n.315+388_315+389insAATA
NM_000518.5:c.315+388_315+389insAATA MANE Select NP_000509.1:n.315+388_315+389insAATA
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