Canonical Allele Identifier: CA2630740005
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177225-CGCAGGCGGCGGCTGCGGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177226_177243del , CM000678.2:g.177226_177243del GRCh38
NC_000016.9:g.227225_227242del , CM000678.1:g.227225_227242del GRCh37
NC_000016.8:g.167225_167242del NCBI36
NG_000006.1:g.38089_38106del
NG_059186.1:g.5576_5593del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.301-57_301-40del MANE Select ENSP00000322421.5:n.301-57_301-40del
ENST00000397797.1:c.205-57_205-40del ENSP00000380899.1:n.205-57_205-40del
ENST00000472694.1:n.437-57_437-40del
ENST00000487791.1:n.362_379del
NM_000558.4:c.301-57_301-40del NP_000549.1:n.301-57_301-40del
NM_000558.5:c.301-57_301-40del MANE Select NP_000549.1:n.301-57_301-40del
Search 100 bp 5'
Search 100 bp 3'