Canonical Allele Identifier: CA620700261

Gene: GNPTG

Linked Data

• dbSNP Id: rs1567185427
• gnomAD v2: 16-1412847-G-GCTCATAA
• gnomAD v4: 16-1362846-G-GCTCATAA
• MyVariant Identifiers: chr16:g.1412847_1412848insCTCATAA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362846_1362847insCTCATAA , CM000678.2:g.1362846_1362847insCTCATAA	GRCh38
NC_000016.9:g.1412847_1412848insCTCATAA , CM000678.1:g.1412847_1412848insCTCATAA	GRCh37
NC_000016.8:g.1352848_1352849insCTCATAA	NCBI36
NG_016985.1:g.15948_15949insCTCATAA
NG_033129.1:g.56858_56859insTTATGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.862_863insCTCATAA
ENST00000529110.2:c.847_848insCTCATAA	ENSP00000435349.2:p.Glu283AlafsTer?
ENST00000529957.6:n.821_822insCTCATAA
ENST00000683366.1:c.*495_*496insCTCATAA	ENSP00000507283.1:n.*495_*496insCTCATAA
ENST00000683887.1:c.811_812insCTCATAA	ENSP00000506886.1:p.Glu271AlafsTer?
ENST00000684100.1:n.757_758insCTCATAA
ENST00000684126.1:n.897_898insCTCATAA
ENST00000684688.1:n.1388_1389insCTCATAA
ENST00000204679.9:c.763_764insCTCATAA MANE Select	ENSP00000204679.4:p.Glu255AlafsTer?
ENST00000204679.8:c.763_764insCTCATAA	ENSP00000204679.4:p.Glu255AlafsTer?
ENST00000527076.1:n.1986_1987insCTCATAA
ENST00000527168.5:n.930_931insCTCATAA
ENST00000529957.5:n.862_863insCTCATAA
NM_032520.4:c.763_764insCTCATAA	NP_115909.1:p.Glu255AlafsTer?
XM_017023782.1:c.811_812insCTCATAA	XP_016879271.1:p.Glu271AlafsTer?
XM_017023783.1:c.403_404insCTCATAA	XP_016879272.1:p.Glu135AlafsTer?
NM_032520.5:c.763_764insCTCATAA MANE Select	NP_115909.1:p.Glu255AlafsTer?