Canonical Allele Identifier: CA2241307818

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809657_88809659delinsCTG , CM000678.2:g.88809657_88809659delinsCTG	GRCh38
NC_000016.9:g.88876065_88876067delinsCTG , CM000678.1:g.88876065_88876067delinsCTG	GRCh37
NC_000016.8:g.87403566_87403568delinsCTG	NCBI36
NG_008013.1:g.7276_7278delinsCAG
NG_028266.1:g.10880_10882delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*39_*41delinsCAG MANE Select	ENSP00000367615.3:n.*39_*41delinsCAG
ENST00000378364.7:c.*39_*41delinsCAG	ENSP00000367615.3:n.*39_*41delinsCAG
ENST00000426324.6:c.*43_*45delinsCAG	ENSP00000397007.2:n.*43_*45delinsCAG
ENST00000563655.5:c.*39_*41delinsCAG	ENSP00000456012.1:n.*39_*41delinsCAG
ENST00000567057.5:n.247_249delinsCAG
ENST00000567391.5:c.*256_*258delinsCAG	ENSP00000457964.1:n.*256_*258delinsCAG
ENST00000567713.5:c.322-124_322-122delinsCAG	ENSP00000455749.1:n.322-124_322-122delinsCAG
ENST00000568319.5:c.*122_*124delinsCAG	ENSP00000456905.1:n.*122_*124delinsCAG
ENST00000569616.1:c.647_649delinsCAG
NM_000485.2:c.*39_*41delinsCAG	NP_000476.1:n.*39_*41delinsCAG
NM_001030018.1:c.*43_*45delinsCAG	NP_001025189.1:n.*43_*45delinsCAG
NM_000485.3:c.*39_*41delinsCAG MANE Select	NP_000476.1:n.*39_*41delinsCAG
NM_001030018.2:c.*43_*45delinsCAG	NP_001025189.1:n.*43_*45delinsCAG