Canonical Allele Identifier: CA2201615237

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362577_1362584delinsAGCTGGGT , CM000678.2:g.1362577_1362584delinsAGCTGGGT	GRCh38
NC_000016.9:g.1412578_1412585delinsAGCTGGGT , CM000678.1:g.1412578_1412585delinsAGCTGGGT	GRCh37
NC_000016.8:g.1352579_1352586delinsAGCTGGGT	NCBI36
NG_016985.1:g.15679_15686delinsAGCTGGGT
NG_033129.1:g.57121_57128delinsACCCAGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.709-34_709-27delinsAGCTGGGT
ENST00000529110.2:c.694-34_694-27delinsAGCTGGGT	ENSP00000435349.2:n.694-34_694-27delinsAG...
ENST00000529957.6:n.668-34_668-27delinsAGCTGGGT
ENST00000683366.1:c.*342-34_*342-27delinsAGCTGGGT	ENSP00000507283.1:n.*342-34_*342-27delins...
ENST00000683887.1:c.658-34_658-27delinsAGCTGGGT	ENSP00000506886.1:n.658-34_658-27delinsAG...
ENST00000684100.1:n.604-34_604-27delinsAGCTGGGT
ENST00000684126.1:n.710_717delinsAGCTGGGT
ENST00000684688.1:n.1235-34_1235-27delinsAGCTGGGT
ENST00000204679.9:c.610-34_610-27delinsAGCTGGGT MANE Select	ENSP00000204679.4:n.610-34_610-27delinsAG...
ENST00000204679.8:c.610-34_610-27delinsAGCTGGGT	ENSP00000204679.4:n.610-34_610-27delinsAG...
ENST00000527076.1:n.1799_1806delinsAGCTGGGT
ENST00000527168.5:n.777-34_777-27delinsAGCTGGGT
ENST00000529957.5:n.709-34_709-27delinsAGCTGGGT
NM_032520.4:c.610-34_610-27delinsAGCTGGGT	NP_115909.1:n.610-34_610-27delinsAGCTGGGT...
XM_017023782.1:c.658-34_658-27delinsAGCTGGGT	XP_016879271.1:n.658-34_658-27delinsAGCTG...
XM_017023783.1:c.250-34_250-27delinsAGCTGGGT	XP_016879272.1:n.250-34_250-27delinsAGCTG...
NM_032520.5:c.610-34_610-27delinsAGCTGGGT MANE Select	NP_115909.1:n.610-34_610-27delinsAGCTGGGT...