Canonical Allele Identifier: CA2634887512

Gene: APRT

Linked Data

• gnomAD v4: 16-88810271-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810273_88810274del , CM000678.2:g.88810273_88810274del	GRCh38
NC_000016.9:g.88876681_88876682del , CM000678.1:g.88876681_88876682del	GRCh37
NC_000016.8:g.87404182_87404183del	NCBI36
NG_008013.1:g.6662_6663del
NG_028266.1:g.11496_11497del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.322-125_322-124del MANE Select	ENSP00000367615.3:n.322-125_322-124del
ENST00000378364.7:c.322-125_322-124del	ENSP00000367615.3:n.322-125_322-124del
ENST00000426324.6:c.322-125_322-124del	ENSP00000397007.2:n.322-125_322-124del
ENST00000562464.1:n.332-125_332-124del
ENST00000563655.5:c.241-125_241-124del	ENSP00000456012.1:n.241-125_241-124del
ENST00000567391.5:c.188-125_188-124del	ENSP00000457964.1:n.188-125_188-124del
ENST00000567713.5:c.321+150_321+151del	ENSP00000455749.1:n.321+150_321+151del
ENST00000568319.5:c.188-125_188-124del	ENSP00000456905.1:n.188-125_188-124del
ENST00000568575.1:n.126_127del
ENST00000569616.1:c.320-125_320-124del
NM_000485.2:c.322-125_322-124del	NP_000476.1:n.322-125_322-124del
NM_001030018.1:c.322-125_322-124del	NP_001025189.1:n.322-125_322-124del
NM_000485.3:c.322-125_322-124del MANE Select	NP_000476.1:n.322-125_322-124del
NM_001030018.2:c.322-125_322-124del	NP_001025189.1:n.322-125_322-124del