Canonical Allele Identifier: CA591310942

Gene: ABO

Linked Data

• dbSNP Id: rs1554760413
• gnomAD v2: 9-136149556-CAG-C
• gnomAD v3: 9-133274140-CAG-C
• gnomAD v4: 9-133274140-CAG-C
• MyVariant Identifiers: chr9:g.136149557_136149558del (hg19) ; chr9:g.133274141_133274142del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133274141_133274142del , CM000671.2:g.133274141_133274142del	GRCh38
NC_000009.11:g.136149557_136149558del , CM000671.1:g.136149557_136149558del	GRCh37
NC_000009.10:g.135139378_135139379del	NCBI36
NG_006669.1:g.3493_3494del
NG_006669.2:g.6073_6074del

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.58+1020_58+1021del
ENST00000647353.1:n.53+1020_53+1021del
ENST00000651471.1:n.63+1820_63+1821del
ENST00000679909.1:c.28+1020_28+1021del	ENSP00000506089.1:n.28+1020_28+1021del
ENST00000453660.3:n.40+1020_40+1021del
ENST00000538324.2:c.28+1020_28+1021del	ENSP00000483018.1:n.28+1020_28+1021del
ENST00000611156.4:c.28+1020_28+1021del	ENSP00000483265.1:n.28+1020_28+1021del
NM_020469.2:c.28+1020_28+1021del	NP_065202.2:n.28+1020_28+1021del
NM_020469.3:c.28+1020_28+1021del	NP_065202.2:n.28+1020_28+1021del