Canonical Allele Identifier: CA2525820718

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361672_1361673insTT , CM000678.2:g.1361672_1361673insTT	GRCh38
NC_000016.9:g.1411673_1411674insTT , CM000678.1:g.1411673_1411674insTT	GRCh37
NC_000016.8:g.1351674_1351675insTT	NCBI36
NG_016985.1:g.14774_14775insTT
NG_033129.1:g.58032_58033insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.278-71_278-70insTT
ENST00000529110.2:c.263-71_263-70insTT	ENSP00000435349.2:n.263-71_263-70insTT
ENST00000529957.6:n.237-71_237-70insTT
ENST00000683366.1:c.179-200_179-199insTT	ENSP00000507283.1:n.179-200_179-199insTT
ENST00000683887.1:c.179-23_179-22insTT	ENSP00000506886.1:n.179-23_179-22insTT
ENST00000684100.1:n.28_29insTT
ENST00000684126.1:n.237-71_237-70insTT
ENST00000684688.1:n.733_734insTT
ENST00000204679.9:c.179-71_179-70insTT MANE Select	ENSP00000204679.4:n.179-71_179-70insTT
ENST00000204679.8:c.179-71_179-70insTT	ENSP00000204679.4:n.179-71_179-70insTT
ENST00000526820.5:c.*81-71_*81-70insTT	ENSP00000434413.1:n.*81-71_*81-70insTT
ENST00000527076.1:n.1050_1051insTT
ENST00000527168.5:n.270-200_270-199insTT
ENST00000529110.1:c.246-71_246-70insTT
ENST00000529957.5:n.278-71_278-70insTT
NM_032520.4:c.179-71_179-70insTT	NP_115909.1:n.179-71_179-70insTT
XM_017023782.1:c.179-23_179-22insTT	XP_016879271.1:n.179-23_179-22insTT
XM_017023783.1:c.-182-71_-182-70insTT	XP_016879272.1:n.-182-71_-182-70insTT
NM_032520.5:c.179-71_179-70insTT MANE Select	NP_115909.1:n.179-71_179-70insTT