Canonical Allele Identifier: CA591310941

Gene: ABO

Linked Data

• dbSNP Id: rs1554760411
• gnomAD v2: 9-136149549-CTGAG-C
• gnomAD v3: 9-133274133-CTGAG-C
• gnomAD v4: 9-133274133-CTGAG-C
• MyVariant Identifiers: chr9:g.136149550_136149553del (hg19) ; chr9:g.133274134_133274137del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133274134_133274137del , CM000671.2:g.133274134_133274137del	GRCh38
NC_000009.11:g.136149550_136149553del , CM000671.1:g.136149550_136149553del	GRCh37
NC_000009.10:g.135139371_135139374del	NCBI36
NG_006669.1:g.3498_3501del
NG_006669.2:g.6078_6081del

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.58+1025_58+1028del
ENST00000647353.1:n.53+1025_53+1028del
ENST00000651471.1:n.63+1825_63+1828del
ENST00000679909.1:c.28+1025_28+1028del	ENSP00000506089.1:n.28+1025_28+1028del
ENST00000453660.3:n.40+1025_40+1028del
ENST00000538324.2:c.28+1025_28+1028del	ENSP00000483018.1:n.28+1025_28+1028del
ENST00000611156.4:c.28+1025_28+1028del	ENSP00000483265.1:n.28+1025_28+1028del
NM_020469.2:c.28+1025_28+1028del	NP_065202.2:n.28+1025_28+1028del
NM_020469.3:c.28+1025_28+1028del	NP_065202.2:n.28+1025_28+1028del