Canonical Allele Identifier: CA2630740002
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177220-T-TACACCA
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177220_177221insACACCA , CM000678.2:g.177220_177221insACACCA GRCh38
NC_000016.9:g.227219_227220insACACCA , CM000678.1:g.227219_227220insACACCA GRCh37
NC_000016.8:g.167219_167220insACACCA NCBI36
NG_000006.1:g.38083_38084insACACCA
NG_059186.1:g.5570_5571insACACCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.301-63_301-62insACACCA MANE Select ENSP00000322421.5:n.301-63_301-62insACACCA
ENST00000397797.1:c.205-63_205-62insACACCA ENSP00000380899.1:n.205-63_205-62insACACCA
ENST00000472694.1:n.437-63_437-62insACACCA
ENST00000487791.1:n.356_357insACACCA
NM_000558.4:c.301-63_301-62insACACCA NP_000549.1:n.301-63_301-62insACACCA
NM_000558.5:c.301-63_301-62insACACCA MANE Select NP_000549.1:n.301-63_301-62insACACCA
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