Canonical Allele Identifier: CA1129725027
Gene: ABO HGNC NCBI

Linked Data

gnomAD v3: 9-133274139-G-GAC
gnomAD v4: 9-133274139-G-GAC
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133274139_133274140insAC , CM000671.2:g.133274139_133274140insAC GRCh38
NC_000009.11:g.136149555_136149556insAC , CM000671.1:g.136149555_136149556insAC GRCh37
NC_000009.10:g.135139376_135139377insAC NCBI36
NG_006669.1:g.3495_3496insGT
NG_006669.2:g.6075_6076insGT

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.58+1022_58+1023insGT
ENST00000647353.1:n.53+1022_53+1023insGT
ENST00000651471.1:n.63+1822_63+1823insGT
ENST00000679909.1:c.28+1022_28+1023insGT ENSP00000506089.1:n.28+1022_28+1023insGT
ENST00000453660.3:n.40+1022_40+1023insGT
ENST00000538324.2:c.28+1022_28+1023insGT ENSP00000483018.1:n.28+1022_28+1023insGT
ENST00000611156.4:c.28+1022_28+1023insGT ENSP00000483265.1:n.28+1022_28+1023insGT
NM_020469.2:c.28+1022_28+1023insGT NP_065202.2:n.28+1022_28+1023insGT
NM_020469.3:c.28+1022_28+1023insGT NP_065202.2:n.28+1022_28+1023insGT
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