Canonical Allele Identifier: CA2692330345
Gene: ABO HGNC NCBI

Linked Data

gnomAD v4: 9-133255857-GGT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255858_133255859del , CM000671.2:g.133255858_133255859del GRCh38
NC_000009.11:g.136131245_136131246del , CM000671.1:g.136131245_136131246del GRCh37
NC_000009.10:g.135121066_135121067del NCBI36
NG_006669.1:g.21809_21810del
NG_006669.2:g.24357_24358del

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.901_902del
ENST00000647353.1:n.54-4707_54-4706del
ENST00000679909.1:c.28+19303_28+19304del ENSP00000506089.1:n.28+19303_28+19304del
ENST00000453660.3:n.883_884del
ENST00000538324.2:c.869_870del ENSP00000483018.1:p.Asp290AlafsTer?
ENST00000611156.4:c.869_870del ENSP00000483265.1:p.Asp290AlafsTer?
NM_020469.2:c.872_873del NP_065202.2:p.Asp291AlafsTer?
NM_020469.3:c.872_873del NP_065202.2:p.Asp291AlafsTer?
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