Canonical Allele Identifier: CA2630960508

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362385-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362386dup , CM000678.2:g.1362386dup	GRCh38
NC_000016.9:g.1412387dup , CM000678.1:g.1412387dup	GRCh37
NC_000016.8:g.1352388dup	NCBI36
NG_016985.1:g.15488dup
NG_033129.1:g.57319dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.626-66dup
ENST00000529110.2:c.611-66dup	ENSP00000435349.2:n.611-66dup
ENST00000529957.6:n.585-66dup
ENST00000683366.1:c.*259-66dup	ENSP00000507283.1:n.*259-66dup
ENST00000683887.1:c.575-66dup	ENSP00000506886.1:n.575-66dup
ENST00000684100.1:n.521-66dup
ENST00000684126.1:n.585-66dup
ENST00000684688.1:n.1152-66dup
ENST00000204679.9:c.527-66dup MANE Select	ENSP00000204679.4:n.527-66dup
ENST00000204679.8:c.527-66dup	ENSP00000204679.4:n.527-66dup
ENST00000527076.1:n.1608dup
ENST00000527168.5:n.628dup
ENST00000529957.5:n.626-66dup
NM_032520.4:c.527-66dup	NP_115909.1:n.527-66dup
XM_017023782.1:c.575-66dup	XP_016879271.1:n.575-66dup
XM_017023783.1:c.167-66dup	XP_016879272.1:n.167-66dup
NM_032520.5:c.527-66dup MANE Select	NP_115909.1:n.527-66dup