Canonical Allele Identifier: CA286425749

Gene: APRT

Linked Data

• ClinVar Variation Id: 1200071
• ClinVar RCV Id: RCV001564971
• dbSNP Id: rs8191488
• gnomAD v2: 16-88876678-AGCCC-A
• gnomAD v3: 16-88810270-AGCCC-A
• gnomAD v4: 16-88810270-AGCCC-A
• MyVariant Identifiers: chr16:g.88876679_88876682del (hg19) ; chr16:g.88810271_88810274del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810271_88810274del , CM000678.2:g.88810271_88810274del	GRCh38
NC_000016.9:g.88876679_88876682del , CM000678.1:g.88876679_88876682del	GRCh37
NC_000016.8:g.87404180_87404183del	NCBI36
NG_008013.1:g.6661_6664del
NG_028266.1:g.11494_11497del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.322-126_322-123del MANE Select	ENSP00000367615.3:n.322-126_322-123del
ENST00000378364.7:c.322-126_322-123del	ENSP00000367615.3:n.322-126_322-123del
ENST00000426324.6:c.322-126_322-123del	ENSP00000397007.2:n.322-126_322-123del
ENST00000562464.1:n.332-126_332-123del
ENST00000563655.5:c.241-126_241-123del	ENSP00000456012.1:n.241-126_241-123del
ENST00000567391.5:c.188-126_188-123del	ENSP00000457964.1:n.188-126_188-123del
ENST00000567713.5:c.321+149_321+152del	ENSP00000455749.1:n.321+149_321+152del
ENST00000568319.5:c.188-126_188-123del	ENSP00000456905.1:n.188-126_188-123del
ENST00000568575.1:n.125_128del
ENST00000569616.1:c.320-126_320-123del
NM_000485.2:c.322-126_322-123del	NP_000476.1:n.322-126_322-123del
NM_001030018.1:c.322-126_322-123del	NP_001025189.1:n.322-126_322-123del
NM_000485.3:c.322-126_322-123del MANE Select	NP_000476.1:n.322-126_322-123del
NM_001030018.2:c.322-126_322-123del	NP_001025189.1:n.322-126_322-123del