Canonical Allele Identifier: CA8234340

Gene: APRT

Linked Data

• dbSNP Id: rs751820457
• ExAC: 16:88876110 TCATA / T
• gnomAD v2: 16-88876110-TCATA-T
• gnomAD v4: 16-88809702-TCATA-T
• MyVariant Identifiers: chr16:g.88876111_88876114del (hg19) ; chr16:g.88809703_88809706del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809704_88809707del , CM000678.2:g.88809704_88809707del	GRCh38
NC_000016.9:g.88876112_88876115del , CM000678.1:g.88876112_88876115del	GRCh37
NC_000016.8:g.87403613_87403616del	NCBI36
NG_008013.1:g.7229_7232del
NG_028266.1:g.10927_10930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.535_538del MANE Select	ENSP00000367615.3:p.Tyr179SerfsTer?
ENST00000378364.7:c.535_538del	ENSP00000367615.3:p.Tyr179SerfsTer?
ENST00000426324.6:c.401_404del
ENST00000563655.5:c.454_457del	ENSP00000456012.1:p.Tyr152SerfsTer?
ENST00000567057.5:n.200_203del
ENST00000567391.5:c.*209_*212del	ENSP00000457964.1:n.*209_*212del
ENST00000567713.5:c.322-171_322-168del	ENSP00000455749.1:n.322-171_322-168del
ENST00000568319.5:c.*75_*78del
ENST00000568575.1:n.464_467del
ENST00000569616.1:c.600_603del
NM_000485.2:c.535_538del	NP_000476.1:p.Tyr179SerfsTer?
NM_001030018.1:c.401_404del
NM_000485.3:c.535_538del MANE Select	NP_000476.1:p.Tyr179SerfsTer?
NM_001030018.2:c.401_404del