Canonical Allele Identifier: CA2825002320

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 3234887
• ClinVar RCV Id: RCV004547235

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362906_1362907insTGCT , CM000678.2:g.1362906_1362907insTGCT	GRCh38
NC_000016.9:g.1412907_1412908insTGCT , CM000678.1:g.1412907_1412908insTGCT	GRCh37
NC_000016.8:g.1352908_1352909insTGCT	NCBI36
NG_016985.1:g.16008_16009insTGCT
NG_033129.1:g.56798_56799insAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922_922+1insTGCT
ENST00000529110.2:c.907_907+1insTGCT	ENSP00000435349.2:n.907_907+1insTGCT
ENST00000529957.6:n.881_881+1insTGCT
ENST00000683366.1:c.*555_*555+1insTGCT	ENSP00000507283.1:n.*555_*555+1insTGCT
ENST00000683887.1:c.871_871+1insTGCT	ENSP00000506886.1:n.871_871+1insTGCT
ENST00000684100.1:n.817_817+1insTGCT
ENST00000684126.1:n.957_957+1insTGCT
ENST00000684688.1:n.1448_1448+1insTGCT
ENST00000204679.9:c.823_823+1insTGCT MANE Select	ENSP00000204679.4:n.823_823+1insTGCT
ENST00000204679.8:c.823_823+1insTGCT	ENSP00000204679.4:n.823_823+1insTGCT
ENST00000527076.1:n.2046_2046+1insTGCT
ENST00000527168.5:n.990_990+1insTGCT
NM_032520.4:c.823_823+1insTGCT	NP_115909.1:n.823_823+1insTGCT
XM_017023782.1:c.871_871+1insTGCT	XP_016879271.1:n.871_871+1insTGCT
XM_017023783.1:c.463_463+1insTGCT	XP_016879272.1:n.463_463+1insTGCT
NM_032520.5:c.823_823+1insTGCT MANE Select	NP_115909.1:n.823_823+1insTGCT