Canonical Allele Identifier: CA2805551996

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362292_1362293insAACC , CM000678.2:g.1362292_1362293insAACC	GRCh38
NC_000016.9:g.1412293_1412294insAACC , CM000678.1:g.1412293_1412294insAACC	GRCh37
NC_000016.8:g.1352294_1352295insAACC	NCBI36
NG_016985.1:g.15394_15395insAACC
NG_033129.1:g.57414_57415insTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.597_598insAACC
ENST00000529110.2:c.582_583insAACC	ENSP00000435349.2:p.Leu195AsnfsTer?
ENST00000529957.6:n.556_557insAACC
ENST00000683366.1:c.*230_*231insAACC	ENSP00000507283.1:n.*230_*231insAACC
ENST00000683887.1:c.546_547insAACC	ENSP00000506886.1:p.Leu183AsnfsTer?
ENST00000684100.1:n.492_493insAACC
ENST00000684126.1:n.556_557insAACC
ENST00000684688.1:n.1123_1124insAACC
ENST00000204679.9:c.498_499insAACC MANE Select	ENSP00000204679.4:p.Leu167AsnfsTer?
ENST00000204679.8:c.498_499insAACC	ENSP00000204679.4:p.Leu167AsnfsTer?
ENST00000527076.1:n.1514_1515insAACC
ENST00000527168.5:n.534_535insAACC
ENST00000529957.5:n.597_598insAACC
NM_032520.4:c.498_499insAACC	NP_115909.1:p.Leu167AsnfsTer?
XM_017023782.1:c.546_547insAACC	XP_016879271.1:p.Leu183AsnfsTer?
XM_017023783.1:c.138_139insAACC	XP_016879272.1:p.Leu47AsnfsTer?
NM_032520.5:c.498_499insAACC MANE Select	NP_115909.1:p.Leu167AsnfsTer?