Canonical Allele Identifier: CA624209315

Gene: APRT

Linked Data

• ClinVar Variation Id: 988052
• ClinVar RCV Id: RCV001269444 ; RCV001880178
• dbSNP Id: rs1449730265
• gnomAD v2: 16-88876864-AGT-A
• gnomAD v3: 16-88810456-AGT-A
• gnomAD v4: 16-88810456-AGT-A
• MyVariant Identifiers: chr16:g.88876865_88876866del (hg19) ; chr16:g.88810457_88810458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810458_88810459del , CM000678.2:g.88810458_88810459del	GRCh38
NC_000016.9:g.88876866_88876867del , CM000678.1:g.88876866_88876867del	GRCh37
NC_000016.8:g.87404367_87404368del	NCBI36
NG_008013.1:g.6477_6478del
NG_028266.1:g.11681_11682del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378364.8:c.286_287del MANE Select	ENSP00000367615.3:p.Thr96SerfsTer13
ENST00000378364.7:c.286_287del	ENSP00000367615.3:p.Thr96SerfsTer13
ENST00000426324.6:c.286_287del	ENSP00000397007.2:p.Thr96SerfsTer13
ENST00000562464.1:n.332-310_332-309del
ENST00000563655.5:c.241-310_241-309del	ENSP00000456012.1:n.241-310_241-309del
ENST00000567391.5:c.188-310_188-309del	ENSP00000457964.1:n.188-310_188-309del
ENST00000567713.5:c.286_287del	ENSP00000455749.1:p.Thr96SerfsTer18
ENST00000568319.5:c.188-310_188-309del	ENSP00000456905.1:n.188-310_188-309del
ENST00000569616.1:c.284_285del
NM_000485.2:c.286_287del	NP_000476.1:p.Thr96SerfsTer13
NM_001030018.1:c.286_287del	NP_001025189.1:p.Thr96SerfsTer13
NM_000485.3:c.286_287del MANE Select	NP_000476.1:p.Thr96SerfsTer13
NM_001030018.2:c.286_287del	NP_001025189.1:p.Thr96SerfsTer13