Canonical Allele Identifier: CA2580613920

Gene: APRT

Linked Data

• ClinVar Variation Id: 2115627
• ClinVar RCV Id: RCV003046556

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810098_88810100del , CM000678.2:g.88810098_88810100del	GRCh38
NC_000016.9:g.88876506_88876508del , CM000678.1:g.88876506_88876508del	GRCh37
NC_000016.8:g.87404007_87404009del	NCBI36
NG_008013.1:g.6840_6842del
NG_028266.1:g.11321_11323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.375_377del MANE Select	ENSP00000367615.3:p.Val126del
ENST00000378364.7:c.375_377del	ENSP00000367615.3:p.Val126del
ENST00000426324.6:c.375_377del	ENSP00000397007.2:p.Val126del
ENST00000562464.1:n.385_387del
ENST00000563655.5:c.294_296del	ENSP00000456012.1:p.Val99del
ENST00000567057.5:n.174_176del
ENST00000567391.5:c.*49_*51del	ENSP00000457964.1:n.*49_*51del
ENST00000567713.5:c.321+328_321+330del	ENSP00000455749.1:n.321+328_321+330del
ENST00000568319.5:c.*49_*51del	ENSP00000456905.1:n.*49_*51del
ENST00000568575.1:n.304_306del
ENST00000569616.1:c.373_375del
NM_000485.2:c.375_377del	NP_000476.1:p.Val126del
NM_001030018.1:c.375_377del	NP_001025189.1:p.Val126del
NM_000485.3:c.375_377del MANE Select	NP_000476.1:p.Val126del
NM_001030018.2:c.375_377del	NP_001025189.1:p.Val126del