Canonical Allele Identifier: CA2695221401

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362265del , CM000678.2:g.1362265del	GRCh38
NC_000016.9:g.1412266del , CM000678.1:g.1412266del	GRCh37
NC_000016.8:g.1352267del	NCBI36
NG_016985.1:g.15367del
NG_033129.1:g.57440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.570del
ENST00000529110.2:c.555del	ENSP00000435349.2:p.Cys185TrpfsTer5
ENST00000529957.6:n.529del
ENST00000683366.1:c.*203del	ENSP00000507283.1:n.*203del
ENST00000683887.1:c.519del	ENSP00000506886.1:p.Cys173TrpfsTer5
ENST00000684100.1:n.465del
ENST00000684126.1:n.529del
ENST00000684688.1:n.1096del
ENST00000204679.9:c.471del MANE Select	ENSP00000204679.4:p.Cys157TrpfsTer5
ENST00000204679.8:c.471del	ENSP00000204679.4:p.Cys157TrpfsTer5
ENST00000527076.1:n.1487del
ENST00000527168.5:n.507del
ENST00000529110.1:c.538del
ENST00000529957.5:n.570del
NM_032520.4:c.471del	NP_115909.1:p.Cys157TrpfsTer5
XM_017023782.1:c.519del	XP_016879271.1:p.Cys173TrpfsTer5
XM_017023783.1:c.111del	XP_016879272.1:p.Cys37TrpfsTer5
NM_032520.5:c.471del MANE Select	NP_115909.1:p.Cys157TrpfsTer5