Canonical Allele Identifier: CA2499223218

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1076841
• ClinVar RCV Id: RCV001390867
• dbSNP Id: rs2141862900

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362211_1362223del , CM000678.2:g.1362211_1362223del	GRCh38
NC_000016.9:g.1412212_1412224del , CM000678.1:g.1412212_1412224del	GRCh37
NC_000016.8:g.1352213_1352225del	NCBI36
NG_016985.1:g.15313_15325del
NG_033129.1:g.57487_57499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.516_528del
ENST00000529110.2:c.501_513del	ENSP00000435349.2:p.Leu168LysfsTer18
ENST00000529957.6:n.475_487del
ENST00000683366.1:c.*149_*161del	ENSP00000507283.1:n.*149_*161del
ENST00000683887.1:c.465_477del	ENSP00000506886.1:p.Leu156LysfsTer18
ENST00000684100.1:n.411_423del
ENST00000684126.1:n.475_487del
ENST00000684688.1:n.1042_1054del
ENST00000204679.9:c.417_429del MANE Select	ENSP00000204679.4:p.Leu140LysfsTer18
ENST00000204679.8:c.417_429del	ENSP00000204679.4:p.Leu140LysfsTer18
ENST00000527076.1:n.1433_1445del
ENST00000527168.5:n.453_465del
ENST00000529110.1:c.484_496del
ENST00000529957.5:n.516_528del
NM_032520.4:c.417_429del	NP_115909.1:p.Leu140LysfsTer18
XM_017023782.1:c.465_477del	XP_016879271.1:p.Leu156LysfsTer18
XM_017023783.1:c.57_69del	XP_016879272.1:p.Leu20LysfsTer18
NM_032520.5:c.417_429del MANE Select	NP_115909.1:p.Leu140LysfsTer18