Canonical Allele Identifier: CA2825002319

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 3234886
• ClinVar RCV Id: RCV004547234

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362902_1362905del , CM000678.2:g.1362902_1362905del	GRCh38
NC_000016.9:g.1412903_1412906del , CM000678.1:g.1412903_1412906del	GRCh37
NC_000016.8:g.1352904_1352907del	NCBI36
NG_016985.1:g.16004_16007del
NG_033129.1:g.56800_56803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.918_921del
ENST00000529110.2:c.903_906del	ENSP00000435349.2:p.Thr302LysfsTer?
ENST00000529957.6:n.877_880del
ENST00000683366.1:c.*551_*554del	ENSP00000507283.1:n.*551_*554del
ENST00000683887.1:c.867_870del	ENSP00000506886.1:p.Thr290LysfsTer?
ENST00000684100.1:n.813_816del
ENST00000684126.1:n.953_956del
ENST00000684688.1:n.1444_1447del
ENST00000204679.9:c.819_822del MANE Select	ENSP00000204679.4:p.Thr274LysfsTer?
ENST00000204679.8:c.819_822del	ENSP00000204679.4:p.Thr274LysfsTer?
ENST00000527076.1:n.2042_2045del
ENST00000527168.5:n.986_989del
ENST00000529957.5:n.918_921del
NM_032520.4:c.819_822del	NP_115909.1:p.Thr274LysfsTer?
XM_017023782.1:c.867_870del	XP_016879271.1:p.Thr290LysfsTer?
XM_017023783.1:c.459_462del	XP_016879272.1:p.Thr154LysfsTer?
NM_032520.5:c.819_822del MANE Select	NP_115909.1:p.Thr274LysfsTer?