Canonical Allele Identifier: CA2630960439

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362376-C-CTGGAGGCCCTGTAGTGCTGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362377_1362399dup , CM000678.2:g.1362377_1362399dup	GRCh38
NC_000016.9:g.1412378_1412400dup , CM000678.1:g.1412378_1412400dup	GRCh37
NC_000016.8:g.1352379_1352401dup	NCBI36
NG_016985.1:g.15479_15501dup
NG_033129.1:g.57306_57328dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+57_626-53dup
ENST00000529110.2:c.610+57_611-53dup	ENSP00000435349.2:n.610+57_611-53dup
ENST00000529957.6:n.584+57_585-53dup
ENST00000683366.1:c.*258+57_*259-53dup	ENSP00000507283.1:n.*258+57_*259-53dup
ENST00000683887.1:c.574+57_575-53dup	ENSP00000506886.1:n.574+57_575-53dup
ENST00000684100.1:n.520+57_521-53dup
ENST00000684126.1:n.584+57_585-53dup
ENST00000684688.1:n.1151+57_1152-53dup
ENST00000204679.9:c.526+57_527-53dup MANE Select	ENSP00000204679.4:n.526+57_527-53dup
ENST00000204679.8:c.526+57_527-53dup	ENSP00000204679.4:n.526+57_527-53dup
ENST00000527076.1:n.1599_1621dup
ENST00000527168.5:n.619_641dup
ENST00000529957.5:n.625+57_626-53dup
NM_032520.4:c.526+57_527-53dup	NP_115909.1:n.526+57_527-53dup
XM_017023782.1:c.574+57_575-53dup	XP_016879271.1:n.574+57_575-53dup
XM_017023783.1:c.166+57_167-53dup	XP_016879272.1:n.166+57_167-53dup
NM_032520.5:c.526+57_527-53dup MANE Select	NP_115909.1:n.526+57_527-53dup