Canonical Allele Identifier: CA2201615091

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034913896
• gnomAD v4: 16-1362380-AGGCCCTGTAGTGCTGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362385_1362401del , CM000678.2:g.1362385_1362401del	GRCh38
NC_000016.9:g.1412386_1412402del , CM000678.1:g.1412386_1412402del	GRCh37
NC_000016.8:g.1352387_1352403del	NCBI36
NG_016985.1:g.15487_15503del
NG_033129.1:g.57308_57324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+65_626-51del
ENST00000529110.2:c.610+65_611-51del	ENSP00000435349.2:n.610+65_611-51del
ENST00000529957.6:n.584+65_585-51del
ENST00000683366.1:c.*258+65_*259-51del	ENSP00000507283.1:n.*258+65_*259-51del
ENST00000683887.1:c.574+65_575-51del	ENSP00000506886.1:n.574+65_575-51del
ENST00000684100.1:n.520+65_521-51del
ENST00000684126.1:n.584+65_585-51del
ENST00000684688.1:n.1151+65_1152-51del
ENST00000204679.9:c.526+65_527-51del MANE Select	ENSP00000204679.4:n.526+65_527-51del
ENST00000204679.8:c.526+65_527-51del	ENSP00000204679.4:n.526+65_527-51del
ENST00000527076.1:n.1607_1623del
ENST00000527168.5:n.627_643del
ENST00000529957.5:n.625+65_626-51del
NM_032520.4:c.526+65_527-51del	NP_115909.1:n.526+65_527-51del
XM_017023782.1:c.574+65_575-51del	XP_016879271.1:n.574+65_575-51del
XM_017023783.1:c.166+65_167-51del	XP_016879272.1:n.166+65_167-51del
NM_032520.5:c.526+65_527-51del MANE Select	NP_115909.1:n.526+65_527-51del