Canonical Allele Identifier: CA2630960876

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362527-C-CTGTGTGTAACTGTGGTCAGCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362527_1362528insTGTGTGTAACTGTGGTCAGCAGA , CM000678.2:g.1362527_1362528insTGTGTGTAACTGTGGTCAGCAGA	GRCh38
NC_000016.9:g.1412528_1412529insTGTGTGTAACTGTGGTCAGCAGA , CM000678.1:g.1412528_1412529insTGTGTGTAACTGTGGTCAGCAGA	GRCh37
NC_000016.8:g.1352529_1352530insTGTGTGTAACTGTGGTCAGCAGA	NCBI36
NG_016985.1:g.15629_15630insTGTGTGTAACTGTGGTCAGCAGA
NG_033129.1:g.57177_57178insTCTGCTGACCACAGTTACACACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.701_702insTGTGTGTAACTGTGGTCAGCAGA
ENST00000529110.2:c.686_687insTGTGTGTAACTGTGGTCAGCAGA	ENSP00000435349.2:p.Pro230ValfsTer16
ENST00000529957.6:n.660_661insTGTGTGTAACTGTGGTCAGCAGA
ENST00000683366.1:c.*334_*335insTGTGTGTAACTGTGGTCAGCAGA	ENSP00000507283.1:n.*334_*335insTGTGTGTAA...
ENST00000683887.1:c.650_651insTGTGTGTAACTGTGGTCAGCAGA	ENSP00000506886.1:p.Pro218ValfsTer16
ENST00000684100.1:n.596_597insTGTGTGTAACTGTGGTCAGCAGA
ENST00000684126.1:n.660_661insTGTGTGTAACTGTGGTCAGCAGA
ENST00000684688.1:n.1227_1228insTGTGTGTAACTGTGGTCAGCAGA
ENST00000204679.9:c.602_603insTGTGTGTAACTGTGGTCAGCAGA MANE Select	ENSP00000204679.4:p.Pro202ValfsTer16
ENST00000204679.8:c.602_603insTGTGTGTAACTGTGGTCAGCAGA	ENSP00000204679.4:p.Pro202ValfsTer16
ENST00000527076.1:n.1749_1750insTGTGTGTAACTGTGGTCAGCAGA
ENST00000527168.5:n.769_770insTGTGTGTAACTGTGGTCAGCAGA
ENST00000529957.5:n.701_702insTGTGTGTAACTGTGGTCAGCAGA
NM_032520.4:c.602_603insTGTGTGTAACTGTGGTCAGCAGA	NP_115909.1:p.Pro202ValfsTer16
XM_017023782.1:c.650_651insTGTGTGTAACTGTGGTCAGCAGA	XP_016879271.1:p.Pro218ValfsTer16
XM_017023783.1:c.242_243insTGTGTGTAACTGTGGTCAGCAGA	XP_016879272.1:p.Pro82ValfsTer16
NM_032520.5:c.602_603insTGTGTGTAACTGTGGTCAGCAGA MANE Select	NP_115909.1:p.Pro202ValfsTer16