Canonical Allele Identifier: CA2692330347

Gene: ABO

Linked Data

• gnomAD v4: 9-133255919-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255920_133255921del , CM000671.2:g.133255920_133255921del	GRCh38
NC_000009.11:g.136131307_136131308del , CM000671.1:g.136131307_136131308del	GRCh37
NC_000009.10:g.135121128_135121129del	NCBI36
NG_006669.1:g.21747_21748del
NG_006669.2:g.24295_24296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.839_840del
ENST00000647353.1:n.54-4769_54-4768del
ENST00000679909.1:c.28+19241_28+19242del	ENSP00000506089.1:n.28+19241_28+19242del
ENST00000453660.3:n.821_822del
ENST00000538324.2:c.807_808del	ENSP00000483018.1:p.Phe269LeufsTer?
ENST00000611156.4:c.807_808del	ENSP00000483265.1:p.Phe269LeufsTer?
NM_020469.2:c.810_811del	NP_065202.2:p.Phe270LeufsTer?
NM_020469.3:c.810_811del	NP_065202.2:p.Phe270LeufsTer?