Canonical Allele Identifier: CA2201615086

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034913501
• gnomAD v3: 16-1362373-C-CTGCTGGAGGCCCTGTAG
• gnomAD v4: 16-1362373-C-CTGCTGGAGGCCCTGTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362380_1362396dup , CM000678.2:g.1362380_1362396dup	GRCh38
NC_000016.9:g.1412381_1412397dup , CM000678.1:g.1412381_1412397dup	GRCh37
NC_000016.8:g.1352382_1352398dup	NCBI36
NG_016985.1:g.15482_15498dup
NG_033129.1:g.57315_57331dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+60_626-56dup
ENST00000529110.2:c.610+60_611-56dup	ENSP00000435349.2:n.610+60_611-56dup
ENST00000529957.6:n.584+60_585-56dup
ENST00000683366.1:c.*258+60_*259-56dup	ENSP00000507283.1:n.*258+60_*259-56dup
ENST00000683887.1:c.574+60_575-56dup	ENSP00000506886.1:n.574+60_575-56dup
ENST00000684100.1:n.520+60_521-56dup
ENST00000684126.1:n.584+60_585-56dup
ENST00000684688.1:n.1151+60_1152-56dup
ENST00000204679.9:c.526+60_527-56dup MANE Select	ENSP00000204679.4:n.526+60_527-56dup
ENST00000204679.8:c.526+60_527-56dup	ENSP00000204679.4:n.526+60_527-56dup
ENST00000527076.1:n.1602_1618dup
ENST00000527168.5:n.622_638dup
ENST00000529957.5:n.625+60_626-56dup
NM_032520.4:c.526+60_527-56dup	NP_115909.1:n.526+60_527-56dup
XM_017023782.1:c.574+60_575-56dup	XP_016879271.1:n.574+60_575-56dup
XM_017023783.1:c.166+60_167-56dup	XP_016879272.1:n.166+60_167-56dup
NM_032520.5:c.526+60_527-56dup MANE Select	NP_115909.1:n.526+60_527-56dup