Canonical Allele Identifier: CA620700256

Gene: GNPTG

Linked Data

• dbSNP Id: rs1567185339
• gnomAD v2: 16-1412831-T-TAG
• gnomAD v4: 16-1362830-T-TAG
• MyVariant Identifiers: chr16:g.1412833_1412835delinsGAAAG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362831_1362832insGA , CM000678.2:g.1362831_1362832insGA	GRCh38
NC_000016.9:g.1412832_1412833insGA , CM000678.1:g.1412832_1412833insGA	GRCh37
NC_000016.8:g.1352833_1352834insGA	NCBI36
NG_016985.1:g.15933_15934insGA
NG_033129.1:g.56874_56875insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.847_848insGA
ENST00000529110.2:c.832_833insGA	ENSP00000435349.2:p.Lys278ArgfsTer11
ENST00000529957.6:n.806_807insGA
ENST00000683366.1:c.*480_*481insGA	ENSP00000507283.1:n.*480_*481insGA
ENST00000683887.1:c.796_797insGA	ENSP00000506886.1:p.Lys266ArgfsTer11
ENST00000684100.1:n.742_743insGA
ENST00000684126.1:n.882_883insGA
ENST00000684688.1:n.1373_1374insGA
ENST00000204679.9:c.748_749insGA MANE Select	ENSP00000204679.4:p.Lys250ArgfsTer11
ENST00000204679.8:c.748_749insGA	ENSP00000204679.4:p.Lys250ArgfsTer11
ENST00000527076.1:n.1971_1972insGA
ENST00000527168.5:n.915_916insGA
ENST00000529957.5:n.847_848insGA
NM_032520.4:c.748_749insGA	NP_115909.1:p.Lys250ArgfsTer11
XM_017023782.1:c.796_797insGA	XP_016879271.1:p.Lys266ArgfsTer11
XM_017023783.1:c.388_389insGA	XP_016879272.1:p.Lys130ArgfsTer11
NM_032520.5:c.748_749insGA MANE Select	NP_115909.1:p.Lys250ArgfsTer11