Canonical Allele Identifier: CA2630962045

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362899-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362902del , CM000678.2:g.1362902del	GRCh38
NC_000016.9:g.1412903del , CM000678.1:g.1412903del	GRCh37
NC_000016.8:g.1352904del	NCBI36
NG_016985.1:g.16004del
NG_033129.1:g.56805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.918del
ENST00000529110.2:c.903del	ENSP00000435349.2:p.Thr302GlnfsTer?
ENST00000529957.6:n.877del
ENST00000683366.1:c.*551del	ENSP00000507283.1:n.*551del
ENST00000683887.1:c.867del	ENSP00000506886.1:p.Thr290GlnfsTer?
ENST00000684100.1:n.813del
ENST00000684126.1:n.953del
ENST00000684688.1:n.1444del
ENST00000204679.9:c.819del MANE Select	ENSP00000204679.4:p.Thr274GlnfsTer?
ENST00000204679.8:c.819del	ENSP00000204679.4:p.Thr274GlnfsTer?
ENST00000527076.1:n.2042del
ENST00000527168.5:n.986del
ENST00000529957.5:n.918del
NM_032520.4:c.819del	NP_115909.1:p.Thr274GlnfsTer?
XM_017023782.1:c.867del	XP_016879271.1:p.Thr290GlnfsTer?
XM_017023783.1:c.459del	XP_016879272.1:p.Thr154GlnfsTer?
NM_032520.5:c.819del MANE Select	NP_115909.1:p.Thr274GlnfsTer?