Canonical Allele Identifier: CA2241307852

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809710_88809715delinsCAGGAG , CM000678.2:g.88809710_88809715delinsCAGGAG	GRCh38
NC_000016.9:g.88876118_88876123delinsCAGGAG , CM000678.1:g.88876118_88876123delinsCAGGAG	GRCh37
NC_000016.8:g.87403619_87403624delinsCAGGAG	NCBI36
NG_008013.1:g.7220_7225delinsCTCCTG
NG_028266.1:g.10933_10938delinsCAGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.526_531delinsCTCCTG MANE Select	ENSP00000367615.3:p.Leu176=
ENST00000378364.7:c.526_531delinsCTCCTG	ENSP00000367615.3:p.Leu176=
ENST00000426324.6:c.401-9_401-4delinsCTCCTG	ENSP00000397007.2:n.401-9_401-4delinsCTCCTG
ENST00000563655.5:c.445_450delinsCTCCTG	ENSP00000456012.1:p.Leu149=
ENST00000567057.5:n.200-9_200-4delinsCTCCTG
ENST00000567391.5:c.*200_*205delinsCTCCTG	ENSP00000457964.1:n.*200_*205delinsCTCCTG
ENST00000567713.5:c.322-180_322-175delinsCTCCTG	ENSP00000455749.1:n.322-180_322-175delinsCTCCTG
ENST00000568319.5:c.*75-9_*75-4delinsCTCCTG	ENSP00000456905.1:n.*75-9_*75-4delinsCTCCTG
ENST00000568575.1:n.455_460delinsCTCCTG
ENST00000569616.1:c.591_596delinsCTCCTG
NM_000485.2:c.526_531delinsCTCCTG	NP_000476.1:p.Leu176=
NM_001030018.1:c.401-9_401-4delinsCTCCTG	NP_001025189.1:n.401-9_401-4delinsCTCCTG
NM_000485.3:c.526_531delinsCTCCTG MANE Select	NP_000476.1:p.Leu176=
NM_001030018.2:c.401-9_401-4delinsCTCCTG	NP_001025189.1:n.401-9_401-4delinsCTCCTG