Canonical Allele Identifier: CA2573151719

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1599689
• ClinVar RCV Id: RCV002129871
• dbSNP Id: rs1204106540

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362203del , CM000678.2:g.1362203del	GRCh38
NC_000016.9:g.1412204del , CM000678.1:g.1412204del	GRCh37
NC_000016.8:g.1352205del	NCBI36
NG_016985.1:g.15305del
NG_033129.1:g.57505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-3del
ENST00000529110.2:c.496-3del	ENSP00000435349.2:n.496-3del
ENST00000529957.6:n.470-3del
ENST00000683366.1:c.*144-3del	ENSP00000507283.1:n.*144-3del
ENST00000683887.1:c.460-3del	ENSP00000506886.1:n.460-3del
ENST00000684100.1:n.406-3del
ENST00000684126.1:n.470-3del
ENST00000684688.1:n.1037-3del
ENST00000204679.9:c.412-3del MANE Select	ENSP00000204679.4:n.412-3del
ENST00000204679.8:c.412-3del	ENSP00000204679.4:n.412-3del
ENST00000527076.1:n.1428-3del
ENST00000527168.5:n.448-3del
ENST00000529110.1:c.479-3del
ENST00000529957.5:n.511-3del
NM_032520.4:c.412-3del	NP_115909.1:n.412-3del
XM_017023782.1:c.460-3del	XP_016879271.1:n.460-3del
XM_017023783.1:c.52-3del	XP_016879272.1:n.52-3del
NM_032520.5:c.412-3del MANE Select	NP_115909.1:n.412-3del