Canonical Allele Identifier: CA725630086

Gene: APRT

Linked Data

• dbSNP Id: rs1236258817
• gnomAD v3: 16-88809628-CA-C
• gnomAD v4: 16-88809628-CA-C
• MyVariant Identifiers: chr16:g.88876037del (hg19) ; chr16:g.88809629del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809629del , CM000678.2:g.88809629del	GRCh38
NC_000016.9:g.88876037del , CM000678.1:g.88876037del	GRCh37
NC_000016.8:g.87403538del	NCBI36
NG_008013.1:g.7306del
NG_028266.1:g.10852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*69del MANE Select	ENSP00000367615.3:n.*69del
ENST00000378364.7:c.*69del	ENSP00000367615.3:n.*69del
ENST00000426324.6:c.*73del	ENSP00000397007.2:n.*73del
ENST00000563655.5:c.*69del	ENSP00000456012.1:n.*69del
ENST00000567057.5:n.277del
ENST00000567391.5:c.*286del	ENSP00000457964.1:n.*286del
ENST00000567713.5:c.322-94del	ENSP00000455749.1:n.322-94del
ENST00000568319.5:c.*152del	ENSP00000456905.1:n.*152del
ENST00000569616.1:c.677del
NM_000485.2:c.*69del	NP_000476.1:n.*69del
NM_001030018.1:c.*73del	NP_001025189.1:n.*73del
NM_000485.3:c.*69del MANE Select	NP_000476.1:n.*69del
NM_001030018.2:c.*73del	NP_001025189.1:n.*73del