Canonical Allele Identifier: CA2200883341
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177432_177435delinsGCTT , CM000678.2:g.177432_177435delinsGCTT GRCh38
NC_000016.9:g.227431_227434delinsGCTT , CM000678.1:g.227431_227434delinsGCTT GRCh37
NC_000016.8:g.167431_167434delinsGCTT NCBI36
NG_000006.1:g.38295_38298delinsGCTT
NG_059186.1:g.5782_5785delinsGCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.*21_*24delinsGCTT MANE Select ENSP00000322421.5:n.*21_*24delinsGCTT
ENST00000397797.1:c.*21_*24delinsGCTT ENSP00000380899.1:n.*21_*24delinsGCTT
ENST00000472694.1:n.586_589delinsGCTT
NM_000558.4:c.*21_*24delinsGCTT NP_000549.1:n.*21_*24delinsGCTT
NM_000558.5:c.*21_*24delinsGCTT MANE Select NP_000549.1:n.*21_*24delinsGCTT