Canonical Allele Identifier: CA2692330789

Gene: ABO

Linked Data

• gnomAD v4: 9-133258037-A-AAT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133258039_133258040dup , CM000671.2:g.133258039_133258040dup	GRCh38
NC_000009.11:g.136133429_136133430dup , CM000671.1:g.136133429_136133430dup	GRCh37
NC_000009.10:g.135123250_135123251dup	NCBI36
NG_006669.1:g.19625_19626dup
NG_006669.2:g.22176_22177dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.269+58_269+59dup
ENST00000647353.1:n.54-6887_54-6886dup
ENST00000651471.1:n.329+3_329+4dup
ENST00000679909.1:c.28+17123_28+17124dup	ENSP00000506089.1:n.28+17123_28+17124dup
ENST00000453660.3:n.251+58_251+59dup
ENST00000538324.2:c.239+58_239+59dup	ENSP00000483018.1:n.239+58_239+59dup
ENST00000611156.4:c.239+58_239+59dup	ENSP00000483265.1:n.239+58_239+59dup
NM_020469.2:c.239+58_239+59dup	NP_065202.2:n.239+58_239+59dup
NM_020469.3:c.239+58_239+59dup	NP_065202.2:n.239+58_239+59dup