Canonical Allele Identifier: CA2634888037

Gene: APRT

Linked Data

• gnomAD v4: 16-88810512-C-CCTGGGCCAGGGAGGGGCCAAAGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810513_88810537dup , CM000678.2:g.88810513_88810537dup	GRCh38
NC_000016.9:g.88876921_88876945dup , CM000678.1:g.88876921_88876945dup	GRCh37
NC_000016.8:g.87404422_87404446dup	NCBI36
NG_008013.1:g.6398_6422dup
NG_028266.1:g.11736_11760dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.207_231dup MANE Select	ENSP00000367615.3:p.Glu78ProfsTer?
ENST00000378364.7:c.207_231dup	ENSP00000367615.3:p.Glu78ProfsTer?
ENST00000426324.6:c.207_231dup	ENSP00000397007.2:p.Glu78ProfsTer?
ENST00000562464.1:n.332-389_332-365dup
ENST00000563655.5:c.241-389_241-365dup	ENSP00000456012.1:n.241-389_241-365dup
ENST00000567391.5:c.188-389_188-365dup	ENSP00000457964.1:n.188-389_188-365dup
ENST00000567713.5:c.207_231dup	ENSP00000455749.1:p.Glu78ProfsTer?
ENST00000568319.5:c.188-389_188-365dup	ENSP00000456905.1:n.188-389_188-365dup
ENST00000569616.1:c.205_229dup
NM_000485.2:c.207_231dup	NP_000476.1:p.Glu78ProfsTer?
NM_001030018.1:c.207_231dup	NP_001025189.1:p.Glu78ProfsTer?
NM_000485.3:c.207_231dup MANE Select	NP_000476.1:p.Glu78ProfsTer?
NM_001030018.2:c.207_231dup	NP_001025189.1:p.Glu78ProfsTer?