Canonical Allele Identifier: CA2241308141

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810127_88810128delinsCT , CM000678.2:g.88810127_88810128delinsCT	GRCh38
NC_000016.9:g.88876535_88876536delinsCT , CM000678.1:g.88876535_88876536delinsCT	GRCh37
NC_000016.8:g.87404036_87404037delinsCT	NCBI36
NG_008013.1:g.6807_6808delinsAG
NG_028266.1:g.11350_11351delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.342_343delinsAG MANE Select	ENSP00000367615.3:p.Lys114=
ENST00000378364.7:c.342_343delinsAG	ENSP00000367615.3:p.Lys114=
ENST00000426324.6:c.342_343delinsAG	ENSP00000397007.2:p.Lys114=
ENST00000562464.1:n.352_353delinsAG
ENST00000563655.5:c.261_262delinsAG	ENSP00000456012.1:p.Lys87=
ENST00000567057.5:n.141_142delinsAG
ENST00000567391.5:c.*16_*17delinsAG	ENSP00000457964.1:n.*16_*17delinsAG
ENST00000567713.5:c.321+295_321+296delinsAG	ENSP00000455749.1:n.321+295_321+296delinsAG
ENST00000568319.5:c.*16_*17delinsAG	ENSP00000456905.1:n.*16_*17delinsAG
ENST00000568575.1:n.271_272delinsAG
ENST00000569616.1:c.340_341delinsAG
NM_000485.2:c.342_343delinsAG	NP_000476.1:p.Lys114=
NM_001030018.1:c.342_343delinsAG	NP_001025189.1:p.Lys114=
NM_000485.3:c.342_343delinsAG MANE Select	NP_000476.1:p.Lys114=
NM_001030018.2:c.342_343delinsAG	NP_001025189.1:p.Lys114=