Canonical Allele Identifier: CA2200883263
Gene: HBA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177325_177326delinsCC , CM000678.2:g.177325_177326delinsCC GRCh38
NC_000016.9:g.227324_227325delinsCC , CM000678.1:g.227324_227325delinsCC GRCh37
NC_000016.8:g.167324_167325delinsCC NCBI36
NG_000006.1:g.38188_38189delinsCC
NG_059186.1:g.5675_5676delinsCC

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.343_344delinsCC MANE Select ENSP00000322421.5:p.Pro115=
ENST00000397797.1:c.247_248delinsCC ENSP00000380899.1:p.Pro83=
ENST00000472694.1:n.479_480delinsCC
NM_000558.4:c.343_344delinsCC NP_000549.1:p.Pro115=
NM_000558.5:c.343_344delinsCC MANE Select NP_000549.1:p.Pro115=
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