Canonical Allele Identifier: CA2630962107

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362916-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362917del , CM000678.2:g.1362917del	GRCh38
NC_000016.9:g.1412918del , CM000678.1:g.1412918del	GRCh37
NC_000016.8:g.1352919del	NCBI36
NG_016985.1:g.16019del
NG_033129.1:g.56788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922+11del
ENST00000529110.2:c.907+11del	ENSP00000435349.2:n.907+11del
ENST00000529957.6:n.881+11del
ENST00000683366.1:c.*555+11del	ENSP00000507283.1:n.*555+11del
ENST00000683887.1:c.871+11del	ENSP00000506886.1:n.871+11del
ENST00000684100.1:n.817+11del
ENST00000684126.1:n.957+11del
ENST00000684688.1:n.1448+11del
ENST00000204679.9:c.823+11del MANE Select	ENSP00000204679.4:n.823+11del
ENST00000204679.8:c.823+11del	ENSP00000204679.4:n.823+11del
ENST00000527076.1:n.2046+11del
ENST00000527168.5:n.990+11del
NM_032520.4:c.823+11del	NP_115909.1:n.823+11del
XM_017023782.1:c.871+11del	XP_016879271.1:n.871+11del
XM_017023783.1:c.463+11del	XP_016879272.1:n.463+11del
NM_032520.5:c.823+11del MANE Select	NP_115909.1:n.823+11del