Canonical Allele Identifier: CA343406
Gene: GNPTG HGNC NCBI

Linked Data

ClinVar Variation Id: 39080
ClinVar RCV Id: RCV000032347
dbSNP Id: rs281864956
MyVariant Identifiers: chr16:g.1412240del (hg19) chr16:g.1362239del (hg38)
PubMed: PMID:19938078 PMID:20301728
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362239del , CM000678.2:g.1362239del GRCh38
NC_000016.9:g.1412240del , CM000678.1:g.1412240del GRCh37
NC_000016.8:g.1352241del NCBI36
NG_016985.1:g.15341del
NG_033129.1:g.57467del

Transcript Alleles

HGVS Amino-acid change
ENST00000527168.6:n.544del
ENST00000529110.2:c.529del ENSP00000435349.2:p.Ala177ProfsTer13
ENST00000529957.6:n.503del
ENST00000683366.1:c.*177del ENSP00000507283.1:n.*177del
ENST00000683887.1:c.493del ENSP00000506886.1:p.Ala165ProfsTer13
ENST00000684100.1:n.439del
ENST00000684126.1:n.503del
ENST00000684688.1:n.1070del
ENST00000204679.9:c.445del MANE Select ENSP00000204679.4:p.Ala149ProfsTer13
ENST00000204679.8:c.445del ENSP00000204679.4:p.Ala149ProfsTer13
ENST00000527076.1:n.1461del
ENST00000527168.5:n.481del
ENST00000529110.1:c.512del
ENST00000529957.5:n.544del
NM_032520.4:c.445del NP_115909.1:p.Ala149ProfsTer13
XM_017023782.1:c.493del XP_016879271.1:p.Ala165ProfsTer13
XM_017023783.1:c.85del XP_016879272.1:p.Ala29ProfsTer13
NM_032520.5:c.445del MANE Select NP_115909.1:p.Ala149ProfsTer13
Search 100 bp 5'
Search 100 bp 3'