Canonical Allele Identifier: CA2241308240

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810270_88810274delinsAGCCC , CM000678.2:g.88810270_88810274delinsAGCCC	GRCh38
NC_000016.9:g.88876678_88876682delinsAGCCC , CM000678.1:g.88876678_88876682delinsAGCCC	GRCh37
NC_000016.8:g.87404179_87404183delinsAGCCC	NCBI36
NG_008013.1:g.6661_6665delinsGGGCT
NG_028266.1:g.11493_11497delinsAGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.322-126_322-122delinsGGGCT MANE Select	ENSP00000367615.3:n.322-126_322-122delinsGGGCT
ENST00000378364.7:c.322-126_322-122delinsGGGCT	ENSP00000367615.3:n.322-126_322-122delinsGGGCT
ENST00000426324.6:c.322-126_322-122delinsGGGCT	ENSP00000397007.2:n.322-126_322-122delinsGGGCT
ENST00000562464.1:n.332-126_332-122delinsGGGCT
ENST00000563655.5:c.241-126_241-122delinsGGGCT	ENSP00000456012.1:n.241-126_241-122delinsGGGCT
ENST00000567391.5:c.188-126_188-122delinsGGGCT	ENSP00000457964.1:n.188-126_188-122delinsGGGCT
ENST00000567713.5:c.321+149_321+153delinsGGGCT	ENSP00000455749.1:n.321+149_321+153delinsGGGCT
ENST00000568319.5:c.188-126_188-122delinsGGGCT	ENSP00000456905.1:n.188-126_188-122delinsGGGCT
ENST00000568575.1:n.125_129delinsGGGCT
ENST00000569616.1:c.320-126_320-122delinsGGGCT
NM_000485.2:c.322-126_322-122delinsGGGCT	NP_000476.1:n.322-126_322-122delinsGGGCT
NM_001030018.1:c.322-126_322-122delinsGGGCT	NP_001025189.1:n.322-126_322-122delinsGGGCT
NM_000485.3:c.322-126_322-122delinsGGGCT MANE Select	NP_000476.1:n.322-126_322-122delinsGGGCT
NM_001030018.2:c.322-126_322-122delinsGGGCT	NP_001025189.1:n.322-126_322-122delinsGGGCT