Canonical Allele Identifier: CA591309045

Gene: ABO

Linked Data

• dbSNP Id: rs1421974603
• gnomAD v2: 9-136132588-GCTGGGTTTTACCGAC-G
• gnomAD v3: 9-133257201-GCTGGGTTTTACCGAC-G
• gnomAD v4: 9-133257201-GCTGGGTTTTACCGAC-G
• MyVariant Identifiers: chr9:g.136132589_136132603del (hg19) ; chr9:g.133257202_133257216del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257206_133257220del , CM000671.2:g.133257206_133257220del	GRCh38
NC_000009.11:g.136132593_136132607del , CM000671.1:g.136132593_136132607del	GRCh37
NC_000009.10:g.135122414_135122428del	NCBI36
NG_006669.1:g.20452_20466del
NG_006669.2:g.23000_23014del

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.403+193_403+207del
ENST00000647353.1:n.54-6064_54-6050del
ENST00000651471.1:n.329+826_329+840del
ENST00000679909.1:c.28+17946_28+17960del	ENSP00000506089.1:n.28+17946_28+17960del
ENST00000453660.3:n.385+193_385+207del
ENST00000538324.2:c.371+193_371+207del	ENSP00000483018.1:n.371+193_371+207del
ENST00000611156.4:c.371+193_371+207del	ENSP00000483265.1:n.371+193_371+207del
NM_020469.2:c.374+193_374+207del	NP_065202.2:n.374+193_374+207del
NM_020469.3:c.374+193_374+207del	NP_065202.2:n.374+193_374+207del