Canonical Allele Identifier: CA2630739382
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-176872-CT-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176873del , CM000678.2:g.176873del GRCh38
NC_000016.9:g.226872del , CM000678.1:g.226872del GRCh37
NC_000016.8:g.166872del NCBI36
NG_000006.1:g.37736del
NG_059186.1:g.5223del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.96-56del MANE Select ENSP00000322421.5:n.96-56del
ENST00000397797.1:c.-1-56del ENSP00000380899.1:n.-1-56del
ENST00000472694.1:n.176del
ENST00000487791.1:n.65-56del
NM_000558.4:c.96-56del NP_000549.1:n.96-56del
NM_000558.5:c.96-56del MANE Select NP_000549.1:n.96-56del