Canonical Allele Identifier: CA2612162294
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5226983-A-AAG
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226983_5226984insAG , CM000673.2:g.5226983_5226984insAG GRCh38
NC_000011.9:g.5248213_5248214insAG , CM000673.1:g.5248213_5248214insAG GRCh37
NC_000011.8:g.5204789_5204790insAG NCBI36
NG_000007.3:g.70632_70633insCT
NG_059281.1:g.5088_5089insCT

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.38_39insCT ENSP00000494175.1:p.Ala14LeufsTer7
ENST00000335295.4:c.38_39insCT MANE Select ENSP00000333994.3:p.Ala14LeufsTer7
ENST00000380315.2:c.38_39insCT ENSP00000369671.2:p.Ala14LeufsTer7
ENST00000485743.1:n.89_90insCT
ENST00000633227.1:c.38_39insCT ENSP00000488004.1:p.Ala14LeufsTer7
NM_000518.4:c.38_39insCT NP_000509.1:p.Ala14LeufsTer7
NM_000518.5:c.38_39insCT MANE Select NP_000509.1:p.Ala14LeufsTer7
Search 100 bp 5'
Search 100 bp 3'