Canonical Allele Identifier: CA591309047
Gene: ABO HGNC NCBI

Linked Data

dbSNP Id: rs8176724
gnomAD v2: 9-136132607-G-GCGAGCCCA
gnomAD v3: 9-133257220-G-GCGAGCCCA
gnomAD v4: 9-133257220-G-GCGAGCCCA
MyVariant Identifiers: chr9:g.136132615_136132616insCGAGCCCA (hg19) chr9:g.136132607_136132608insCGAGCCCA (hg19) chr9:g.133257228_133257229insCGAGCCCA (hg38) chr9:g.133257220_133257221insCGAGCCCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257238_133257245dup , CM000671.2:g.133257238_133257245dup GRCh38
NC_000009.11:g.136132625_136132632dup , CM000671.1:g.136132625_136132632dup GRCh37
NC_000009.10:g.135122446_135122453dup NCBI36
NG_006669.1:g.20440_20447dup

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.403+181_403+188dup
ENST00000647353.1:n.54-6076_54-6069dup
ENST00000651471.1:n.329+814_329+821dup
ENST00000679909.1:c.28+17934_28+17941dup ENSP00000506089.1:n.28+17934_28+17941dup
ENST00000453660.3:n.385+181_385+188dup
ENST00000538324.2:c.371+181_371+188dup ENSP00000483018.1:n.371+181_371+188dup
ENST00000611156.4:c.371+181_371+188dup ENSP00000483265.1:n.371+181_371+188dup
NM_020469.2:c.374+181_374+188dup NP_065202.2:n.374+181_374+188dup
NM_020469.3:c.374+181_374+188dup NP_065202.2:n.374+181_374+188dup
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