Canonical Allele Identifier: CA340019
Gene: GNPTG HGNC NCBI

Linked Data

ClinVar Variation Id: 2796
ClinVar RCV Id: RCV000002930
dbSNP Id: rs193302859
MyVariant Identifiers: chr16:g.1412642_1412669del (hg19) chr16:g.1362641_1362668del (hg38)
PubMed: PMID:19370764 PMID:20301784
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362641_1362668del , CM000678.2:g.1362641_1362668del GRCh38
NC_000016.9:g.1412642_1412669del , CM000678.1:g.1412642_1412669del GRCh37
NC_000016.8:g.1352643_1352670del NCBI36
NG_016985.1:g.15743_15770del
NG_033129.1:g.57037_57064del

Transcript Alleles

HGVS Amino-acid change
ENST00000527168.6:n.739_766del
ENST00000529110.2:c.724_751del ENSP00000435349.2:p.Glu242LysfsTer?
ENST00000529957.6:n.698_725del
ENST00000683366.1:c.*372_*399del ENSP00000507283.1:n.*372_*399del
ENST00000683887.1:c.688_715del ENSP00000506886.1:p.Glu230LysfsTer?
ENST00000684100.1:n.634_661del
ENST00000684126.1:n.774_801del
ENST00000684688.1:n.1265_1292del
ENST00000204679.9:c.640_667del MANE Select ENSP00000204679.4:p.Glu214LysfsTer?
ENST00000204679.8:c.640_667del ENSP00000204679.4:p.Glu214LysfsTer?
ENST00000527076.1:n.1863_1890del
ENST00000527168.5:n.807_834del
ENST00000529957.5:n.739_766del
NM_032520.4:c.640_667del NP_115909.1:p.Glu214LysfsTer?
XM_017023782.1:c.688_715del XP_016879271.1:p.Glu230LysfsTer?
XM_017023783.1:c.280_307del XP_016879272.1:p.Glu94LysfsTer?
NM_032520.5:c.640_667del MANE Select NP_115909.1:p.Glu214LysfsTer?
Search 100 bp 5'
Search 100 bp 3'