Canonical Allele Identifier: CA342413
Gene: GNPTG HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 21723
ClinVar RCV Id: RCV000020926
dbSNP Id: rs193302858

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362640del , CM000678.2:g.1362640del GRCh38
NC_000016.9:g.1412641del , CM000678.1:g.1412641del GRCh37
NC_000016.8:g.1352642del NCBI36
NG_016985.1:g.15742del
NG_033129.1:g.57069del

Transcript Alleles

HGVS Amino-acid change
NM_032520.4:c.639del VV NP_115909.1:p.Phe213LeufsTer7
XM_017023782.1:c.687del XP_016879271.1:p.Phe229LeufsTer7
XM_017023783.1:c.279del XP_016879272.1:p.Phe93LeufsTer7
NM_032520.5:c.639del VV MANE Preferred NP_115909.1:p.Phe213LeufsTer7
ENST00000204679.8:c.639del ENSP00000204679.4:p.Phe213LeufsTer7
ENST00000527076.1:n.1862del
ENST00000527168.5:n.806del
ENST00000529957.5:n.738del