Canonical Allele Identifier: CA1074912232

Gene: AMACR C1QTNF3-AMACR

Linked Data

• dbSNP Id: rs1754048627
• gnomAD v3: 5-34007932-G-GGTGGTA
• gnomAD v4: 5-34007932-G-GGTGGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34007932_34007933insGTGGTA , CM000667.2:g.34007932_34007933insGTGGTA	GRCh38
NC_000005.9:g.34008037_34008038insGTGGTA , CM000667.1:g.34008037_34008038insGTGGTA	GRCh37
NC_000005.8:g.34043794_34043795insGTGGTA	NCBI36
NG_016211.1:g.5183_5184insTACCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335606.11:c.87_88insTACCAC (AMACR) MANE Select	ENSP00000334424.6:p.Ala29_Arg30insTyrHis
ENST00000335606.10:c.87_88insTACCAC (AMACR)	ENSP00000334424.6:p.Ala29_Arg30insTyrHis
ENST00000382068.3:c.87_88insTACCAC (AMACR)	ENSP00000477108.1:p.Ala29_Arg30insTyrHis
ENST00000382072.6:c.87_88insTACCAC (AMACR)	ENSP00000371504.2:p.Ala29_Arg30insTyrHis
ENST00000382079.3:c.690-2034_690-2033insTACCAC (C1QTNF3-AMACR)	ENSP00000371511.3:n.690-2034_690-2033insTACCAC
ENST00000382085.7:c.87_88insTACCAC (AMACR)	ENSP00000371517.3:p.Ala29_Arg30insTyrHis
ENST00000426255.6:c.87_88insTACCAC (AMACR)	ENSP00000476965.1:p.Ala29_Arg30insTyrHis
ENST00000502637.5:c.87_88insTACCAC (AMACR)	ENSP00000424351.1:p.Ala29_Arg30insTyrHis
ENST00000506639.5:c.87_88insTACCAC (AMACR)	ENSP00000427227.1:p.Ala29_Arg30insTyrHis
ENST00000512079.5:c.87_88insTACCAC (AMACR)	ENSP00000477411.1:p.Ala29_Arg30insTyrHis
ENST00000514195.1:n.99_100insTACCAC (AMACR)
NM_001167595.1:c.87_88insTACCAC (AMACR)	NP_001161067.1:p.Ala29_Arg30insTyrHis
NM_014324.5:c.87_88insTACCAC (AMACR)	NP_055139.4:p.Ala29_Arg30insTyrHis
NM_203382.2:c.87_88insTACCAC (AMACR)	NP_976316.1:p.Ala29_Arg30insTyrHis
NR_037951.1:n.765-2034_765-2033insTACCAC (C1QTNF3-AMACR)
NM_014324.6:c.87_88insTACCAC (AMACR) MANE Select	NP_055139.4:p.Ala29_Arg30insTyrHis
NM_001167595.2:c.87_88insTACCAC (AMACR)	NP_001161067.1:p.Ala29_Arg30insTyrHis
NM_203382.3:c.87_88insTACCAC (AMACR)	NP_976316.1:p.Ala29_Arg30insTyrHis