Canonical Allele Identifier: CA2630960743

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362479-AGCGGCAGTGGGACCAGGTAGAGCAGGACCTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362482_1362512del , CM000678.2:g.1362482_1362512del	GRCh38
NC_000016.9:g.1412483_1412513del , CM000678.1:g.1412483_1412513del	GRCh37
NC_000016.8:g.1352484_1352514del	NCBI36
NG_016985.1:g.15584_15614del
NG_033129.1:g.57195_57225del

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.656_686del
ENST00000529110.2:c.641_671del	ENSP00000435349.2:p.Arg214ProfsTer4
ENST00000529957.6:n.615_645del
ENST00000683366.1:c.*289_*319del	ENSP00000507283.1:n.*289_*319del
ENST00000683887.1:c.605_635del	ENSP00000506886.1:p.Arg202ProfsTer4
ENST00000684100.1:n.551_581del
ENST00000684126.1:n.615_645del
ENST00000684688.1:n.1182_1212del
ENST00000204679.9:c.557_587del MANE Select	ENSP00000204679.4:p.Arg186ProfsTer4
ENST00000204679.8:c.557_587del	ENSP00000204679.4:p.Arg186ProfsTer4
ENST00000527076.1:n.1704_1734del
ENST00000527168.5:n.724_754del
ENST00000529957.5:n.656_686del
NM_032520.4:c.557_587del	NP_115909.1:p.Arg186ProfsTer4
XM_017023782.1:c.605_635del	XP_016879271.1:p.Arg202ProfsTer4
XM_017023783.1:c.197_227del	XP_016879272.1:p.Arg66ProfsTer4
NM_032520.5:c.557_587del MANE Select	NP_115909.1:p.Arg186ProfsTer4