Canonical Allele Identifier: CA2200883017
Gene: HBA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176987_177000delinsGGCTCTGCCCAGGT , CM000678.2:g.176987_177000delinsGGCTCTGCCCAGGT GRCh38
NC_000016.9:g.226986_226999delinsGGCTCTGCCCAGGT , CM000678.1:g.226986_226999delinsGGCTCTGCCCAGGT GRCh37
NC_000016.8:g.166986_166999delinsGGCTCTGCCCAGGT NCBI36
NG_000006.1:g.37850_37863delinsGGCTCTGCCCAGGT
NG_059186.1:g.5337_5350delinsGGCTCTGCCCAGGT

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.154_167delinsGGCTCTGCCCAGGT MANE Select ENSP00000322421.5:p.Gly52=
ENST00000397797.1:c.58_71delinsGGCTCTGCCCAGGT ENSP00000380899.1:p.Gly20=
ENST00000472694.1:n.290_303delinsGGCTCTGCCCAGGT
ENST00000487791.1:n.123_136delinsGGCTCTGCCCAGGT
NM_000558.4:c.154_167delinsGGCTCTGCCCAGGT NP_000549.1:p.Gly52=
NM_000558.5:c.154_167delinsGGCTCTGCCCAGGT MANE Select NP_000549.1:p.Gly52=
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