Canonical Allele Identifier: CA658798461

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 501897
• ClinVar RCV Id: RCV000595548
• dbSNP Id: rs1555451874
• MyVariant Identifiers: chr16:g.1412231_1412241del (hg19) ; chr16:g.1362230_1362240del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362230_1362240del , CM000678.2:g.1362230_1362240del	GRCh38
NC_000016.9:g.1412231_1412241del , CM000678.1:g.1412231_1412241del	GRCh37
NC_000016.8:g.1352232_1352242del	NCBI36
NG_016985.1:g.15332_15342del
NG_033129.1:g.57467_57477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.535_545del
ENST00000529110.2:c.520_530del	ENSP00000435349.2:p.Asn174ProfsTer?
ENST00000529957.6:n.494_504del
ENST00000683366.1:c.*168_*178del	ENSP00000507283.1:n.*168_*178del
ENST00000683887.1:c.484_494del	ENSP00000506886.1:p.Asn162ProfsTer?
ENST00000684100.1:n.430_440del
ENST00000684126.1:n.494_504del
ENST00000684688.1:n.1061_1071del
ENST00000204679.9:c.436_446del MANE Select	ENSP00000204679.4:p.Asn146ProfsTer?
ENST00000204679.8:c.436_446del	ENSP00000204679.4:p.Asn146ProfsTer?
ENST00000527076.1:n.1452_1462del
ENST00000527168.5:n.472_482del
ENST00000529110.1:c.503_513del
ENST00000529957.5:n.535_545del
NM_032520.4:c.436_446del	NP_115909.1:p.Asn146ProfsTer?
XM_017023782.1:c.484_494del	XP_016879271.1:p.Asn162ProfsTer?
XM_017023783.1:c.76_86del	XP_016879272.1:p.Asn26ProfsTer?
NM_032520.5:c.436_446del MANE Select	NP_115909.1:p.Asn146ProfsTer?