Canonical Allele Identifier: CA620304289
Community Standard Title: NM_000558.5(HBA1):c.187del (p.Val63TrpfsTer5)
Gene: HBA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177020del , CM000678.2:g.177020del GRCh38
NC_000016.9:g.227019del , CM000678.1:g.227019del GRCh37
NC_000016.8:g.167019del NCBI36
NG_000006.1:g.37883del
NG_059186.1:g.5370del

Transcript Alleles

HGVS Amino-acid Change
NM_000558.5:c.187del MANE Select NP_000549.1:p.Val63TrpfsTer5
ENST00000320868.9:c.187del MANE Select ENSP00000322421.5:p.Val63TrpfsTer5
NM_000558.4:c.187del NP_000549.1:p.Val63TrpfsTer5
ENST00000397797.1:c.91del ENSP00000380899.1:p.Val31TrpfsTer5
ENST00000472694.1:n.323del
ENST00000487791.1:n.156del
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