Canonical Allele Identifier: CA2580092222

Gene: APRT

Linked Data

• ClinVar Variation Id: 1927273
• ClinVar RCV Id: RCV002609802

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810148_88810149delinsAT , CM000678.2:g.88810148_88810149delinsAT	GRCh38
NC_000016.9:g.88876556_88876557delinsAT , CM000678.1:g.88876556_88876557delinsAT	GRCh37
NC_000016.8:g.87404057_87404058delinsAT	NCBI36
NG_008013.1:g.6786_6787delinsAT
NG_028266.1:g.11371_11372delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.322-1_322delinsAT
ENST00000378364.7:c.322-1_322delinsAT
ENST00000426324.6:c.322-1_322delinsAT
ENST00000562464.1:n.332-1_332delinsAT
ENST00000563655.5:c.241-1_241delinsAT
ENST00000567057.5:n.120_121delinsAT
ENST00000567391.5:c.188-1_188delinsAT
ENST00000567713.5:c.321+274_321+275delinsAT	ENSP00000455749.1:n.321+274_321+275delinsAT
ENST00000568319.5:c.188-1_188delinsAT
ENST00000568575.1:n.250_251delinsAT
ENST00000569616.1:c.320-1_320delinsAT
NM_000485.2:c.322-1_322delinsAT
NM_001030018.1:c.322-1_322delinsAT
NM_000485.3:c.322-1_322delinsAT
NM_001030018.2:c.322-1_322delinsAT