Canonical Allele Identifier: CA2692330355
Gene: ABO HGNC NCBI

Linked Data

gnomAD v4: 9-133256027-C-CTGGGGTG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256027_133256028insTGGGGTG , CM000671.2:g.133256027_133256028insTGGGGTG GRCh38
NC_000009.11:g.136131414_136131415insTGGGGTG , CM000671.1:g.136131414_136131415insTGGGGTG GRCh37
NC_000009.10:g.135121235_135121236insTGGGGTG NCBI36
NG_006669.1:g.21640_21641insCACCCCA
NG_006669.2:g.24188_24189insCACCCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.732_733insCACCCCA
ENST00000647353.1:n.54-4876_54-4875insCACCCCA
ENST00000679909.1:c.28+19134_28+19135insCACCCCA ENSP00000506089.1:n.28+19134_28+19135insCACCCCA
ENST00000453660.3:n.714_715insCACCCCA
ENST00000538324.2:c.700_701insCACCCCA ENSP00000483018.1:p.Gly234AlafsTer?
ENST00000611156.4:c.700_701insCACCCCA ENSP00000483265.1:p.Gly234AlafsTer?
NM_020469.2:c.703_704insCACCCCA NP_065202.2:p.Gly235AlafsTer?
NM_020469.3:c.703_704insCACCCCA NP_065202.2:p.Gly235AlafsTer?
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