Canonical Allele Identifier: CA591377574

Gene: ABO

Linked Data

• dbSNP Id: rs1408401579
• gnomAD v2: 9-136131754-G-GGCGGACGGGGGCTGGGGGA
• gnomAD v3: 9-133256367-G-GGCGGACGGGGGCTGGGGGA
• gnomAD v4: 9-133256367-G-GGCGGACGGGGGCTGGGGGA
• MyVariant Identifiers: chr9:g.136131754_136131755insGCGGACGGGGGCTGGGGGA (hg19) ; chr9:g.133256367_133256368insGCGGACGGGGGCTGGGGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256370_133256388dup , CM000671.2:g.133256370_133256388dup	GRCh38
NC_000009.11:g.136131757_136131775dup , CM000671.1:g.136131757_136131775dup	GRCh37
NC_000009.10:g.135121578_135121596dup	NCBI36
NG_006669.1:g.21282_21300dup
NG_006669.2:g.23830_23848dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.404-30_404-12dup
ENST00000647353.1:n.54-5234_54-5216dup
ENST00000651471.1:n.330-30_330-12dup
ENST00000679909.1:c.28+18776_28+18794dup	ENSP00000506089.1:n.28+18776_28+18794dup
ENST00000453660.3:n.386-30_386-12dup
ENST00000538324.2:c.372-30_372-12dup	ENSP00000483018.1:n.372-30_372-12dup
ENST00000611156.4:c.372-30_372-12dup	ENSP00000483265.1:n.372-30_372-12dup
NM_020469.2:c.375-30_375-12dup	NP_065202.2:n.375-30_375-12dup
NM_020469.3:c.375-30_375-12dup	NP_065202.2:n.375-30_375-12dup