Canonical Allele Identifier: CA725630710

Gene: APRT

Linked Data

• dbSNP Id: rs1357521766
• gnomAD v4: 16-88810079-CCAG-C
• MyVariant Identifiers: chr16:g.88876488_88876490del (hg19) ; chr16:g.88810080_88810082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810083_88810085del , CM000678.2:g.88810083_88810085del	GRCh38
NC_000016.9:g.88876491_88876493del , CM000678.1:g.88876491_88876493del	GRCh37
NC_000016.8:g.87403992_87403994del	NCBI36
NG_008013.1:g.6853_6855del
NG_028266.1:g.11306_11308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.388_390del MANE Select	ENSP00000367615.3:p.Leu130del
ENST00000378364.7:c.388_390del	ENSP00000367615.3:p.Leu130del
ENST00000426324.6:c.388_390del	ENSP00000397007.2:p.Leu130del
ENST00000562464.1:n.398_400del
ENST00000563655.5:c.307_309del	ENSP00000456012.1:p.Leu103del
ENST00000567057.5:n.187_189del
ENST00000567391.5:c.*62_*64del	ENSP00000457964.1:n.*62_*64del
ENST00000567713.5:c.321+341_321+343del	ENSP00000455749.1:n.321+341_321+343del
ENST00000568319.5:c.*62_*64del	ENSP00000456905.1:n.*62_*64del
ENST00000568575.1:n.317_319del
ENST00000569616.1:c.386_388del
NM_000485.2:c.388_390del	NP_000476.1:p.Leu130del
NM_001030018.1:c.388_390del	NP_001025189.1:p.Leu130del
NM_000485.3:c.388_390del MANE Select	NP_000476.1:p.Leu130del
NM_001030018.2:c.388_390del	NP_001025189.1:p.Leu130del