Canonical Allele Identifier: CA2630739929
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177130-CA-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177132del , CM000678.2:g.177132del GRCh38
NC_000016.9:g.227131del , CM000678.1:g.227131del GRCh37
NC_000016.8:g.167131del NCBI36
NG_000006.1:g.37995del
NG_059186.1:g.5482del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.299del MANE Select ENSP00000322421.5:p.Lys100SerfsTer3
ENST00000397797.1:c.203del ENSP00000380899.1:p.Lys68SerfsTer3
ENST00000472694.1:n.435del
ENST00000487791.1:n.268del
NM_000558.4:c.299del NP_000549.1:p.Lys100SerfsTer3
NM_000558.5:c.299del MANE Select NP_000549.1:p.Lys100SerfsTer3