Canonical Allele Identifier: CA2630959619

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362210-AGCTGGCGTGTGGAAAAAGCAACCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362217_1362240del , CM000678.2:g.1362217_1362240del	GRCh38
NC_000016.9:g.1412218_1412241del , CM000678.1:g.1412218_1412241del	GRCh37
NC_000016.8:g.1352219_1352242del	NCBI36
NG_016985.1:g.15319_15342del
NG_033129.1:g.57471_57494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.522_545del
ENST00000529110.2:c.507_530del	ENSP00000435349.2:p.Cys170_Ala177del
ENST00000529957.6:n.481_504del
ENST00000683366.1:c.*155_*178del	ENSP00000507283.1:n.*155_*178del
ENST00000683887.1:c.471_494del	ENSP00000506886.1:p.Cys158_Ala165del
ENST00000684100.1:n.417_440del
ENST00000684126.1:n.481_504del
ENST00000684688.1:n.1048_1071del
ENST00000204679.9:c.423_446del MANE Select	ENSP00000204679.4:p.Cys142_Ala149del
ENST00000204679.8:c.423_446del	ENSP00000204679.4:p.Cys142_Ala149del
ENST00000527076.1:n.1439_1462del
ENST00000527168.5:n.459_482del
ENST00000529110.1:c.490_513del
ENST00000529957.5:n.522_545del
NM_032520.4:c.423_446del	NP_115909.1:p.Cys142_Ala149del
XM_017023782.1:c.471_494del	XP_016879271.1:p.Cys158_Ala165del
XM_017023783.1:c.63_86del	XP_016879272.1:p.Cys22_Ala29del
NM_032520.5:c.423_446del MANE Select	NP_115909.1:p.Cys142_Ala149del