Canonical Allele Identifier: CA591377558

Gene: ABO

Linked Data

• gnomAD v2: 9-136130679-CTGTGGCCGGAAGGGCGTATCTGCGATTGCGTGTCTGTGTATGTAAT-C
• gnomAD v3: 9-133255292-CTGTGGCCGGAAGGGCGTATCTGCGATTGCGTGTCTGTGTATGTAAT-C
• gnomAD v4: 9-133255292-CTGTGGCCGGAAGGGCGTATCTGCGATTGCGTGTCTGTGTATGTAAT-C
• MyVariant Identifiers: chr9:g.136130680_136130725del (hg19) ; chr9:g.133255293_133255338del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255293_133255338del , CM000671.2:g.133255293_133255338del	GRCh38
NC_000009.11:g.136130680_136130725del , CM000671.1:g.136130680_136130725del	GRCh37
NC_000009.10:g.135120501_135120546del	NCBI36
NG_006669.1:g.22330_22375del
NG_006669.2:g.24878_24923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1422_1467del
ENST00000647353.1:n.54-4186_54-4141del
ENST00000679909.1:c.28+19824_28+19869del	ENSP00000506089.1:n.28+19824_28+19869del
ENST00000453660.3:n.1404_1449del
ENST00000611156.4:c.*328_*373del	ENSP00000483265.1:n.*328_*373del
NM_020469.2:c.*328_*373del	NP_065202.2:n.*328_*373del
NM_020469.3:c.*328_*373del	NP_065202.2:n.*328_*373del