Canonical Allele Identifier: CA342409
Gene: GNPTG HGNC NCBI

Linked Data

ClinVar Variation Id: 21719
ClinVar RCV Id: RCV000020922
dbSNP Id: rs193302853
MyVariant Identifiers: chr16:g.1412563_1412596del (hg19) chr16:g.1362562_1362595del (hg38)
PubMed: PMID:19370764 PMID:20301784
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362562_1362595del , CM000678.2:g.1362562_1362595del GRCh38
NC_000016.9:g.1412563_1412596del , CM000678.1:g.1412563_1412596del GRCh37
NC_000016.8:g.1352564_1352597del NCBI36
NG_016985.1:g.15664_15697del
NG_033129.1:g.57110_57143del

Transcript Alleles

HGVS Amino-acid change
ENST00000527168.6:n.708+28_709-16del
ENST00000529110.2:c.693+28_694-16del ENSP00000435349.2:n.693+28_694-16del
ENST00000529957.6:n.667+28_668-16del
ENST00000683366.1:c.*341+28_*342-16del ENSP00000507283.1:n.*341+28_*342-16del
ENST00000683887.1:c.657+28_658-16del ENSP00000506886.1:n.657+28_658-16del
ENST00000684100.1:n.603+28_604-16del
ENST00000684126.1:n.695_728del
ENST00000684688.1:n.1234+28_1235-16del
ENST00000204679.9:c.609+28_610-16del MANE Select ENSP00000204679.4:n.609+28_610-16del
ENST00000204679.8:c.609+28_610-16del ENSP00000204679.4:n.609+28_610-16del
ENST00000527076.1:n.1784_1817del
ENST00000527168.5:n.776+28_777-16del
ENST00000529957.5:n.708+28_709-16del
NM_032520.4:c.609+28_610-16del NP_115909.1:n.609+28_610-16del
XM_017023782.1:c.657+28_658-16del XP_016879271.1:n.657+28_658-16del
XM_017023783.1:c.249+28_250-16del XP_016879272.1:n.249+28_250-16del
NM_032520.5:c.609+28_610-16del MANE Select NP_115909.1:n.609+28_610-16del
Search 100 bp 5'
Search 100 bp 3'