Canonical Allele Identifier: CA2200883044
Gene: HBA1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177021_177022delinsTG , CM000678.2:g.177021_177022delinsTG GRCh38
NC_000016.9:g.227020_227021delinsTG , CM000678.1:g.227020_227021delinsTG GRCh37
NC_000016.8:g.167020_167021delinsTG NCBI36
NG_000006.1:g.37884_37885delinsTG
NG_059186.1:g.5371_5372delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.188_189delinsTG MANE Select ENSP00000322421.5:p.Val63=
ENST00000397797.1:c.92_93delinsTG ENSP00000380899.1:p.Val31=
ENST00000472694.1:n.324_325delinsTG
ENST00000487791.1:n.157_158delinsTG
NM_000558.4:c.188_189delinsTG NP_000549.1:p.Val63=
NM_000558.5:c.188_189delinsTG MANE Select NP_000549.1:p.Val63=
Search 100 bp 5'
Search 100 bp 3'