Canonical Allele Identifier: CA2630961308

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362673-AAATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362676_1362679del , CM000678.2:g.1362676_1362679del	GRCh38
NC_000016.9:g.1412677_1412680del , CM000678.1:g.1412677_1412680del	GRCh37
NC_000016.8:g.1352678_1352681del	NCBI36
NG_016985.1:g.15778_15781del
NG_033129.1:g.57028_57031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.774_777del
ENST00000529110.2:c.759_762del	ENSP00000435349.2:p.Glu254ProfsTer?
ENST00000529957.6:n.733_736del
ENST00000683366.1:c.*407_*410del	ENSP00000507283.1:n.*407_*410del
ENST00000683887.1:c.723_726del	ENSP00000506886.1:p.Glu242ProfsTer?
ENST00000684100.1:n.669_672del
ENST00000684126.1:n.809_812del
ENST00000684688.1:n.1300_1303del
ENST00000204679.9:c.675_678del MANE Select	ENSP00000204679.4:p.Glu226ProfsTer?
ENST00000204679.8:c.675_678del	ENSP00000204679.4:p.Glu226ProfsTer?
ENST00000527076.1:n.1898_1901del
ENST00000527168.5:n.842_845del
ENST00000529957.5:n.774_777del
NM_032520.4:c.675_678del	NP_115909.1:p.Glu226ProfsTer?
XM_017023782.1:c.723_726del	XP_016879271.1:p.Glu242ProfsTer?
XM_017023783.1:c.315_318del	XP_016879272.1:p.Glu106ProfsTer?
NM_032520.5:c.675_678del MANE Select	NP_115909.1:p.Glu226ProfsTer?