Canonical Allele Identifier: CA2201615234

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362572_1362583delinsCTGGGAGCTGGG , CM000678.2:g.1362572_1362583delinsCTGGGAGCTGGG	GRCh38
NC_000016.9:g.1412573_1412584delinsCTGGGAGCTGGG , CM000678.1:g.1412573_1412584delinsCTGGGAGCTGGG	GRCh37
NC_000016.8:g.1352574_1352585delinsCTGGGAGCTGGG	NCBI36
NG_016985.1:g.15674_15685delinsCTGGGAGCTGGG
NG_033129.1:g.57122_57133delinsCCCAGCTCCCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.709-39_709-28delinsCTGGGAGCTGGG
ENST00000529110.2:c.694-39_694-28delinsCTGGGAGCTGGG	ENSP00000435349.2:n.694-39_694-28delinsCT...
ENST00000529957.6:n.668-39_668-28delinsCTGGGAGCTGGG
ENST00000683366.1:c.*342-39_*342-28delinsCTGGGAGCTGGG	ENSP00000507283.1:n.*342-39_*342-28delins...
ENST00000683887.1:c.658-39_658-28delinsCTGGGAGCTGGG	ENSP00000506886.1:n.658-39_658-28delinsCT...
ENST00000684100.1:n.604-39_604-28delinsCTGGGAGCTGGG
ENST00000684126.1:n.705_716delinsCTGGGAGCTGGG
ENST00000684688.1:n.1235-39_1235-28delinsCTGGGAGCTGGG
ENST00000204679.9:c.610-39_610-28delinsCTGGGAGCTGGG MANE Select	ENSP00000204679.4:n.610-39_610-28delinsCT...
ENST00000204679.8:c.610-39_610-28delinsCTGGGAGCTGGG	ENSP00000204679.4:n.610-39_610-28delinsCT...
ENST00000527076.1:n.1794_1805delinsCTGGGAGCTGGG
ENST00000527168.5:n.777-39_777-28delinsCTGGGAGCTGGG
ENST00000529957.5:n.709-39_709-28delinsCTGGGAGCTGGG
NM_032520.4:c.610-39_610-28delinsCTGGGAGCTGGG	NP_115909.1:n.610-39_610-28delinsCTGGGAGC...
XM_017023782.1:c.658-39_658-28delinsCTGGGAGCTGGG	XP_016879271.1:n.658-39_658-28delinsCTGGG...
XM_017023783.1:c.250-39_250-28delinsCTGGGAGCTGGG	XP_016879272.1:n.250-39_250-28delinsCTGGG...
NM_032520.5:c.610-39_610-28delinsCTGGGAGCTGGG MANE Select	NP_115909.1:n.610-39_610-28delinsCTGGGAGC...