Canonical Allele Identifier: CA2630960517

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362390-G-GTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362393_1362395dup , CM000678.2:g.1362393_1362395dup	GRCh38
NC_000016.9:g.1412394_1412396dup , CM000678.1:g.1412394_1412396dup	GRCh37
NC_000016.8:g.1352395_1352397dup	NCBI36
NG_016985.1:g.15495_15497dup
NG_033129.1:g.57312_57314dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.626-59_626-57dup
ENST00000529110.2:c.611-59_611-57dup	ENSP00000435349.2:n.611-59_611-57dup
ENST00000529957.6:n.585-59_585-57dup
ENST00000683366.1:c.*259-59_*259-57dup	ENSP00000507283.1:n.*259-59_*259-57dup
ENST00000683887.1:c.575-59_575-57dup	ENSP00000506886.1:n.575-59_575-57dup
ENST00000684100.1:n.521-59_521-57dup
ENST00000684126.1:n.585-59_585-57dup
ENST00000684688.1:n.1152-59_1152-57dup
ENST00000204679.9:c.527-59_527-57dup MANE Select	ENSP00000204679.4:n.527-59_527-57dup
ENST00000204679.8:c.527-59_527-57dup	ENSP00000204679.4:n.527-59_527-57dup
ENST00000527076.1:n.1615_1617dup
ENST00000527168.5:n.635_637dup
ENST00000529957.5:n.626-59_626-57dup
NM_032520.4:c.527-59_527-57dup	NP_115909.1:n.527-59_527-57dup
XM_017023782.1:c.575-59_575-57dup	XP_016879271.1:n.575-59_575-57dup
XM_017023783.1:c.167-59_167-57dup	XP_016879272.1:n.167-59_167-57dup
NM_032520.5:c.527-59_527-57dup MANE Select	NP_115909.1:n.527-59_527-57dup