Canonical Allele Identifier: CA2692330608

Gene: ABO

Linked Data

• gnomAD v4: 9-133257613-GGCCGCCCCCACCTGGAAACTCCACTCAGCTTCTGCCTCCTCTGACCACCCTTCCAGAGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257621_133257681del , CM000671.2:g.133257621_133257681del	GRCh38
NC_000009.11:g.136133008_136133068del , CM000671.1:g.136133008_136133068del	GRCh37
NC_000009.10:g.135122829_135122889del	NCBI36
NG_006669.1:g.19993_20053del
NG_006669.2:g.22541_22601del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.270-132_270-72del
ENST00000647353.1:n.54-6522_54-6462del
ENST00000651471.1:n.329+368_329+428del
ENST00000679909.1:c.28+17488_28+17548del	ENSP00000506089.1:n.28+17488_28+17548del
ENST00000453660.3:n.252-132_252-72del
ENST00000538324.2:c.240-132_240-72del	ENSP00000483018.1:n.240-132_240-72del
ENST00000611156.4:c.240-132_240-72del	ENSP00000483265.1:n.240-132_240-72del
NM_020469.2:c.240-132_240-72del	NP_065202.2:n.240-132_240-72del
NM_020469.3:c.240-132_240-72del	NP_065202.2:n.240-132_240-72del