Canonical Allele Identifier: CA2241308107

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810079_88810082delinsCCAG , CM000678.2:g.88810079_88810082delinsCCAG	GRCh38
NC_000016.9:g.88876487_88876490delinsCCAG , CM000678.1:g.88876487_88876490delinsCCAG	GRCh37
NC_000016.8:g.87403988_87403991delinsCCAG	NCBI36
NG_008013.1:g.6853_6856delinsCTGG
NG_028266.1:g.11302_11305delinsCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.388_391delinsCTGG MANE Select	ENSP00000367615.3:p.Leu130=
ENST00000378364.7:c.388_391delinsCTGG	ENSP00000367615.3:p.Leu130=
ENST00000426324.6:c.388_391delinsCTGG	ENSP00000397007.2:p.Leu130=
ENST00000562464.1:n.398_401delinsCTGG
ENST00000563655.5:c.307_310delinsCTGG	ENSP00000456012.1:p.Leu103=
ENST00000567057.5:n.187_190delinsCTGG
ENST00000567391.5:c.*62_*65delinsCTGG	ENSP00000457964.1:n.*62_*65delinsCTGG
ENST00000567713.5:c.321+341_321+344delinsCTGG	ENSP00000455749.1:n.321+341_321+344delinsCTGG
ENST00000568319.5:c.*62_*65delinsCTGG	ENSP00000456905.1:n.*62_*65delinsCTGG
ENST00000568575.1:n.317_320delinsCTGG
ENST00000569616.1:c.386_389delinsCTGG
NM_000485.2:c.388_391delinsCTGG	NP_000476.1:p.Leu130=
NM_001030018.1:c.388_391delinsCTGG	NP_001025189.1:p.Leu130=
NM_000485.3:c.388_391delinsCTGG MANE Select	NP_000476.1:p.Leu130=
NM_001030018.2:c.388_391delinsCTGG	NP_001025189.1:p.Leu130=