Canonical Allele Identifier: CA2695213021
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225703_5225714del , CM000673.2:g.5225703_5225714del GRCh38
NC_000011.9:g.5246933_5246944del , CM000673.1:g.5246933_5246944del GRCh37
NC_000011.8:g.5203509_5203520del NCBI36
NG_000007.3:g.71909_71920del
NG_059281.1:g.6365_6376del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.335_346del ENSP00000494175.1:p.Val112_Leu115del
ENST00000335295.4:c.335_346del MANE Select ENSP00000333994.3:p.Val112_Leu115del
ENST00000475226.1:n.267_278del
ENST00000633227.1:c.*151_*162del ENSP00000488004.1:n.*151_*162del
NM_000518.4:c.335_346del NP_000509.1:p.Val112_Leu115del
NM_000518.5:c.335_346del MANE Select NP_000509.1:p.Val112_Leu115del
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