Canonical Allele Identifier: CA1129724843
Gene: ABO HGNC NCBI

Linked Data

gnomAD v3: 9-133274129-A-AGTTTT
gnomAD v4: 9-133274129-A-AGTTTT
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133274129_133274130insGTTTT , CM000671.2:g.133274129_133274130insGTTTT GRCh38
NC_000009.11:g.136149545_136149546insGTTTT , CM000671.1:g.136149545_136149546insGTTTT GRCh37
NC_000009.10:g.135139366_135139367insGTTTT NCBI36
NG_006669.1:g.3505_3506insAAAAC
NG_006669.2:g.6085_6086insAAAAC

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.58+1032_58+1033insAAAAC
ENST00000647353.1:n.53+1032_53+1033insAAAAC
ENST00000651471.1:n.63+1832_63+1833insAAAAC
ENST00000679909.1:c.28+1032_28+1033insAAAAC ENSP00000506089.1:n.28+1032_28+1033insAAA...
ENST00000453660.3:n.40+1032_40+1033insAAAAC
ENST00000538324.2:c.28+1032_28+1033insAAAAC ENSP00000483018.1:n.28+1032_28+1033insAAA...
ENST00000611156.4:c.28+1032_28+1033insAAAAC ENSP00000483265.1:n.28+1032_28+1033insAAA...
NM_020469.2:c.28+1032_28+1033insAAAAC NP_065202.2:n.28+1032_28+1033insAAAAC
NM_020469.3:c.28+1032_28+1033insAAAAC NP_065202.2:n.28+1032_28+1033insAAAAC
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