Canonical Allele Identifier: CA2201615478

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1568148
• ClinVar RCV Id: RCV002216831
• dbSNP Id: rs1704719019

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362923_1362961del , CM000678.2:g.1362923_1362961del	GRCh38
NC_000016.9:g.1412924_1412962del , CM000678.1:g.1412924_1412962del	GRCh37
NC_000016.8:g.1352925_1352963del	NCBI36
NG_016985.1:g.16025_16063del
NG_033129.1:g.56754_56792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922+17_923-36del
ENST00000529110.2:c.907+17_908-36del	ENSP00000435349.2:n.907+17_908-36del
ENST00000529957.6:n.881+17_882-36del
ENST00000683366.1:c.*555+17_*556-36del	ENSP00000507283.1:n.*555+17_*556-36del
ENST00000683887.1:c.871+17_872-36del	ENSP00000506886.1:n.871+17_872-36del
ENST00000684100.1:n.817+17_818-36del
ENST00000684126.1:n.957+17_958-36del
ENST00000684688.1:n.1448+17_1449-36del
ENST00000204679.9:c.823+17_824-36del MANE Select	ENSP00000204679.4:n.823+17_824-36del
ENST00000204679.8:c.823+17_824-36del	ENSP00000204679.4:n.823+17_824-36del
ENST00000527076.1:n.2046+17_2047-36del
ENST00000527168.5:n.990+17_991-36del
NM_032520.4:c.823+17_824-36del	NP_115909.1:n.823+17_824-36del
XM_017023782.1:c.871+17_872-36del	XP_016879271.1:n.871+17_872-36del
XM_017023783.1:c.463+17_464-36del	XP_016879272.1:n.463+17_464-36del
NM_032520.5:c.823+17_824-36del MANE Select	NP_115909.1:n.823+17_824-36del