Canonical Allele Identifier: CA342413

Gene: GNPTG

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362640del , CM000678.2:g.1362640del	GRCh38
NC_000016.9:g.1412641del , CM000678.1:g.1412641del	GRCh37
NC_000016.8:g.1352642del	NCBI36
NG_016985.1:g.15742del
NG_033129.1:g.57069del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.738del
ENST00000529110.2:c.723del	ENSP00000435349.2:p.Phe241LeufsTer7
ENST00000529957.6:n.697del
ENST00000683366.1:c.*371del	ENSP00000507283.1:n.*371del
ENST00000683887.1:c.687del	ENSP00000506886.1:p.Phe229LeufsTer7
ENST00000684100.1:n.633del
ENST00000684126.1:n.773del
ENST00000684688.1:n.1264del
ENST00000204679.9:c.639del MANE Select	ENSP00000204679.4:p.Phe213LeufsTer7
ENST00000204679.8:c.639del	ENSP00000204679.4:p.Phe213LeufsTer7
ENST00000527076.1:n.1862del
ENST00000527168.5:n.806del
ENST00000529957.5:n.738del
NM_032520.4:c.639del	NP_115909.1:p.Phe213LeufsTer7
XM_017023782.1:c.687del	XP_016879271.1:p.Phe229LeufsTer7
XM_017023783.1:c.279del	XP_016879272.1:p.Phe93LeufsTer7
NM_032520.5:c.639del MANE Select	NP_115909.1:p.Phe213LeufsTer7