Canonical Allele Identifier: CA2200883041
Gene: HBA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177018_177019delinsAG , CM000678.2:g.177018_177019delinsAG GRCh38
NC_000016.9:g.227017_227018delinsAG , CM000678.1:g.227017_227018delinsAG GRCh37
NC_000016.8:g.167017_167018delinsAG NCBI36
NG_000006.1:g.37881_37882delinsAG
NG_059186.1:g.5368_5369delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.185_186delinsAG MANE Select ENSP00000322421.5:p.Lys62=
ENST00000397797.1:c.89_90delinsAG ENSP00000380899.1:p.Lys30=
ENST00000472694.1:n.321_322delinsAG
ENST00000487791.1:n.154_155delinsAG
NM_000558.4:c.185_186delinsAG NP_000549.1:p.Lys62=
NM_000558.5:c.185_186delinsAG MANE Select NP_000549.1:p.Lys62=
Search 100 bp 5'
Search 100 bp 3'