Canonical Allele Identifier: CA591377556

Gene: ABO

Linked Data

• dbSNP Id: rs1564303140
• gnomAD v2: 9-136130667-AATGGTGTGTTTCTGTGGCCGGAAGGGCGTATCTGCGATTGCGTGTCTGTGTATG-A
• gnomAD v3: 9-133255280-AATGGTGTGTTTCTGTGGCCGGAAGGGCGTATCTGCGATTGCGTGTCTGTGTATG-A
• gnomAD v4: 9-133255280-AATGGTGTGTTTCTGTGGCCGGAAGGGCGTATCTGCGATTGCGTGTCTGTGTATG-A
• MyVariant Identifiers: chr9:g.136130668_136130721del (hg19) ; chr9:g.133255281_133255334del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255281_133255334del , CM000671.2:g.133255281_133255334del	GRCh38
NC_000009.11:g.136130668_136130721del , CM000671.1:g.136130668_136130721del	GRCh37
NC_000009.10:g.135120489_135120542del	NCBI36
NG_006669.1:g.22334_22387del
NG_006669.2:g.24882_24935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1426_1479del
ENST00000647353.1:n.54-4182_54-4129del
ENST00000679909.1:c.28+19828_28+19881del	ENSP00000506089.1:n.28+19828_28+19881del
ENST00000453660.3:n.1408_1461del
ENST00000611156.4:c.*332_*385del	ENSP00000483265.1:n.*332_*385del
NM_020469.2:c.*332_*385del	NP_065202.2:n.*332_*385del
NM_020469.3:c.*332_*385del	NP_065202.2:n.*332_*385del