Canonical Allele Identifier: CA1882580962

Gene: ABO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256328_133256340delinsCCAGGAACAGCTT , CM000671.2:g.133256328_133256340delinsCCAGGAACAGCTT	GRCh38
NC_000009.11:g.136131715_136131727delinsCCAGGAACAGCTT , CM000671.1:g.136131715_136131727delinsCCAGGAACAGCTT	GRCh37
NC_000009.10:g.135121536_135121548delinsCCAGGAACAGCTT	NCBI36
NG_006669.1:g.21328_21340delinsAAGCTGTTCCTGG
NG_006669.2:g.23876_23888delinsAAGCTGTTCCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.420_432delinsAAGCTGTTCCTGG
ENST00000647353.1:n.54-5188_54-5176delinsAAGCTGTTCCTGG
ENST00000651471.1:n.346_358delinsAAGCTGTTCCTGG
ENST00000679909.1:c.28+18822_28+18834delinsAAGCTGTTCCTGG	ENSP00000506089.1:n.28+18822_28+18834delinsAAGCTGTTCCTGG
ENST00000453660.3:n.402_414delinsAAGCTGTTCCTGG
ENST00000538324.2:c.388_400delinsAAGCTGTTCCTGG	ENSP00000483018.1:p.Lys130=
ENST00000611156.4:c.388_400delinsAAGCTGTTCCTGG	ENSP00000483265.1:p.Lys130=
NM_020469.2:c.391_403delinsAAGCTGTTCCTGG	NP_065202.2:p.Lys131=
NM_020469.3:c.391_403delinsAAGCTGTTCCTGG	NP_065202.2:p.Lys131=