Canonical Allele Identifier: CA1949570822
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226985_5226986delinsTA , CM000673.2:g.5226985_5226986delinsTA GRCh38
NC_000011.9:g.5248215_5248216delinsTA , CM000673.1:g.5248215_5248216delinsTA GRCh37
NC_000011.8:g.5204791_5204792delinsTA NCBI36
NG_000007.3:g.70630_70631delinsTA
NG_059281.1:g.5086_5087delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.36_37delinsTA ENSP00000494175.1:p.Val12=
ENST00000335295.4:c.36_37delinsTA MANE Select ENSP00000333994.3:p.Val12=
ENST00000380315.2:c.36_37delinsTA ENSP00000369671.2:p.Val12=
ENST00000485743.1:n.87_88delinsTA
ENST00000633227.1:c.36_37delinsTA ENSP00000488004.1:p.Val12=
NM_000518.4:c.36_37delinsTA NP_000509.1:p.Val12=
NM_000518.5:c.36_37delinsTA MANE Select NP_000509.1:p.Val12=
Search 100 bp 5'
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