Canonical Allele Identifier: CA2580090502

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2193052
• ClinVar RCV Id: RCV002643895

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361900_1361902del , CM000678.2:g.1361900_1361902del	GRCh38
NC_000016.9:g.1411901_1411903del , CM000678.1:g.1411901_1411903del	GRCh37
NC_000016.8:g.1351902_1351904del	NCBI36
NG_016985.1:g.15002_15004del
NG_033129.1:g.57805_57807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.361_363del
ENST00000529110.2:c.346_348del	ENSP00000435349.2:p.Asn116del
ENST00000529957.6:n.320_322del
ENST00000683366.1:c.207_209del	ENSP00000507283.1:p.Thr70del
ENST00000683887.1:c.310_312del	ENSP00000506886.1:p.Asn104del
ENST00000684100.1:n.256_258del
ENST00000684126.1:n.320_322del
ENST00000684688.1:n.887_889del
ENST00000204679.9:c.262_264del MANE Select	ENSP00000204679.4:p.Asn88del
ENST00000204679.8:c.262_264del	ENSP00000204679.4:p.Asn88del
ENST00000526820.5:c.*164_*166del	ENSP00000434413.1:n.*164_*166del
ENST00000527076.1:n.1278_1280del
ENST00000527168.5:n.298_300del
ENST00000529110.1:c.329_331del
ENST00000529957.5:n.361_363del
NM_032520.4:c.262_264del	NP_115909.1:p.Asn88del
XM_017023782.1:c.310_312del	XP_016879271.1:p.Asn104del
XM_017023783.1:c.-99_-97del	XP_016879272.1:n.-99_-97del
NM_032520.5:c.262_264del MANE Select	NP_115909.1:p.Asn88del