Canonical Allele Identifier: CA658824127

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 554142
• ClinVar RCV Id: RCV000669714 ; RCV003767977
• dbSNP Id: rs1555451643
• MyVariant Identifiers: chr16:g.1361880_1361881del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361880_1361881del , CM000678.2:g.1361880_1361881del	GRCh38
NC_000016.9:g.1411881_1411882del , CM000678.1:g.1411881_1411882del	GRCh37
NC_000016.8:g.1351882_1351883del	NCBI36
NG_016985.1:g.14982_14983del
NG_033129.1:g.57825_57826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.341_342del
ENST00000529110.2:c.326_327del	ENSP00000435349.2:p.Tyr109Ter
ENST00000529957.6:n.300_301del
ENST00000683366.1:c.187_188del	ENSP00000507283.1:p.Met63GlufsTer?
ENST00000683887.1:c.290_291del	ENSP00000506886.1:p.Tyr97Ter
ENST00000684100.1:n.236_237del
ENST00000684126.1:n.300_301del
ENST00000684688.1:n.867_868del
ENST00000204679.9:c.242_243del MANE Select	ENSP00000204679.4:p.Tyr81Ter
ENST00000204679.8:c.242_243del	ENSP00000204679.4:p.Tyr81Ter
ENST00000526820.5:c.*144_*145del	ENSP00000434413.1:n.*144_*145del
ENST00000527076.1:n.1258_1259del
ENST00000527168.5:n.278_279del
ENST00000529110.1:c.309_310del
ENST00000529957.5:n.341_342del
NM_032520.4:c.242_243del	NP_115909.1:p.Tyr81Ter
XM_017023782.1:c.290_291del	XP_016879271.1:p.Tyr97Ter
XM_017023783.1:c.-119_-118del	XP_016879272.1:n.-119_-118del
NM_032520.5:c.242_243del MANE Select	NP_115909.1:p.Tyr81Ter