Canonical Allele Identifier: CA2241308372

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810454_88810488delinsAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGAT , CM000678.2:g.88810454_88810488delinsAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGAT	GRCh38
NC_000016.9:g.88876862_88876896delinsAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGAT , CM000678.1:g.88876862_88876896delinsAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGAT	GRCh37
NC_000016.8:g.87404363_87404397delinsAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGAT	NCBI36
NG_008013.1:g.6447_6481delinsATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCT
NG_028266.1:g.11677_11711delinsAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000378364.8:c.256_290delinsATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCT MANE Select	ENSP00000367615.3:p.Ile86=
ENST00000378364.7:c.256_290delinsATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCT	ENSP00000367615.3:p.Ile86=
ENST00000426324.6:c.256_290delinsATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCT	ENSP00000397007.2:p.Ile86=
ENST00000562464.1:n.332-340_332-306delinsATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCT
ENST00000563655.5:c.241-340_241-306delinsATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCT	ENSP00000456012.1:n.241-340_241-306delins...
ENST00000567391.5:c.188-340_188-306delinsATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCT	ENSP00000457964.1:n.188-340_188-306delins...
ENST00000567713.5:c.256_290delinsATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCT	ENSP00000455749.1:p.Ile86=
ENST00000568319.5:c.188-340_188-306delinsATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCT	ENSP00000456905.1:n.188-340_188-306delins...
ENST00000569616.1:c.254_288delinsATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCT
NM_000485.2:c.256_290delinsATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCT	NP_000476.1:p.Ile86=
NM_001030018.1:c.256_290delinsATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCT	NP_001025189.1:p.Ile86=
NM_000485.3:c.256_290delinsATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCT MANE Select	NP_000476.1:p.Ile86=
NM_001030018.2:c.256_290delinsATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCT	NP_001025189.1:p.Ile86=