Canonical Allele Identifier: CA2841422825

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809685_88809686del , CM000678.2:g.88809685_88809686del	GRCh38
NC_000016.9:g.88876093_88876094del , CM000678.1:g.88876093_88876094del	GRCh37
NC_000016.8:g.87403594_87403595del	NCBI36
NG_008013.1:g.7250_7251del
NG_028266.1:g.10908_10909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*13_*14del MANE Select	ENSP00000367615.3:n.*13_*14del
ENST00000378364.7:c.*13_*14del	ENSP00000367615.3:n.*13_*14del
ENST00000426324.6:c.*17_*18del	ENSP00000397007.2:n.*17_*18del
ENST00000563655.5:c.*13_*14del	ENSP00000456012.1:n.*13_*14del
ENST00000567057.5:n.221_222del
ENST00000567391.5:c.*230_*231del	ENSP00000457964.1:n.*230_*231del
ENST00000567713.5:c.322-150_322-149del	ENSP00000455749.1:n.322-150_322-149del
ENST00000568319.5:c.*96_*97del	ENSP00000456905.1:n.*96_*97del
ENST00000568575.1:n.485_486del
ENST00000569616.1:c.621_622del
NM_000485.2:c.*13_*14del	NP_000476.1:n.*13_*14del
NM_001030018.1:c.*17_*18del	NP_001025189.1:n.*17_*18del
NM_000485.3:c.*13_*14del MANE Select	NP_000476.1:n.*13_*14del
NM_001030018.2:c.*17_*18del	NP_001025189.1:n.*17_*18del