Canonical Allele Identifier: CA276416812
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330144
ClinVar RCV Id: RCV001801161
dbSNP Id: rs34353199
gnomAD v3: 16-177013-CAAG-C
gnomAD v4: 16-177013-CAAG-C
MyVariant Identifiers: chr16:g.227013_227015del (hg19) chr16:g.177014_177016del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177017_177019del , CM000678.2:g.177017_177019del GRCh38
NC_000016.9:g.227016_227018del , CM000678.1:g.227016_227018del GRCh37
NC_000016.8:g.167016_167018del NCBI36
NG_000006.1:g.37880_37882del
NG_059186.1:g.5367_5369del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.184_186del MANE Select ENSP00000322421.5:p.Lys62del
ENST00000397797.1:c.88_90del ENSP00000380899.1:p.Lys30del
ENST00000472694.1:n.320_322del
ENST00000487791.1:n.153_155del
NM_000558.4:c.184_186del NP_000549.1:p.Lys62del
NM_000558.5:c.184_186del MANE Select NP_000549.1:p.Lys62del
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Search 100 bp 3'