Canonical Allele Identifier: CA2630960684

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362458-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362460del , CM000678.2:g.1362460del	GRCh38
NC_000016.9:g.1412461del , CM000678.1:g.1412461del	GRCh37
NC_000016.8:g.1352462del	NCBI36
NG_016985.1:g.15562del
NG_033129.1:g.57246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.634del
ENST00000529110.2:c.619del	ENSP00000435349.2:p.Thr207ProfsTer13
ENST00000529957.6:n.593del
ENST00000683366.1:c.*267del	ENSP00000507283.1:n.*267del
ENST00000683887.1:c.583del	ENSP00000506886.1:p.Thr195ProfsTer13
ENST00000684100.1:n.529del
ENST00000684126.1:n.593del
ENST00000684688.1:n.1160del
ENST00000204679.9:c.535del MANE Select	ENSP00000204679.4:p.Thr179ProfsTer13
ENST00000204679.8:c.535del	ENSP00000204679.4:p.Thr179ProfsTer13
ENST00000527076.1:n.1682del
ENST00000527168.5:n.702del
ENST00000529957.5:n.634del
NM_032520.4:c.535del	NP_115909.1:p.Thr179ProfsTer13
XM_017023782.1:c.583del	XP_016879271.1:p.Thr195ProfsTer13
XM_017023783.1:c.175del	XP_016879272.1:p.Thr59ProfsTer13
NM_032520.5:c.535del MANE Select	NP_115909.1:p.Thr179ProfsTer13