Canonical Allele Identifier: CA645557762

Gene: ABO

Linked Data

• COSMIC: COSM6439963

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255770_133255771delinsAA , CM000671.2:g.133255770_133255771delinsAA	GRCh38
NC_000009.11:g.136131157_136131158delinsAA , CM000671.1:g.136131157_136131158delinsAA	GRCh37
NC_000009.10:g.135120978_135120979delinsAA	NCBI36
NG_006669.1:g.21897_21898delinsTT
NG_006669.2:g.24445_24446delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.989_990delinsTT
ENST00000647353.1:n.54-4619_54-4618delinsTT
ENST00000679909.1:c.28+19391_28+19392delinsTT	ENSP00000506089.1:n.28+19391_28+19392delinsTT
ENST00000453660.3:n.971_972delinsTT
ENST00000538324.2:c.957_958delinsTT	ENSP00000483018.1:p.Pro320Ser
ENST00000611156.4:c.957_958delinsTT	ENSP00000483265.1:p.Pro320Ser
NM_020469.2:c.960_961delinsTT	NP_065202.2:p.Pro321Ser
NM_020469.3:c.960_961delinsTT	NP_065202.2:p.Pro321Ser