Canonical Allele Identifier: CA2630959244

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362023-C-CCCGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362025_1362030dup , CM000678.2:g.1362025_1362030dup	GRCh38
NC_000016.9:g.1412026_1412031dup , CM000678.1:g.1412026_1412031dup	GRCh37
NC_000016.8:g.1352027_1352032dup	NCBI36
NG_016985.1:g.15127_15132dup
NG_033129.1:g.57676_57681dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.417-13_417-8dup
ENST00000529110.2:c.402-13_402-8dup	ENSP00000435349.2:n.402-13_402-8dup
ENST00000529957.6:n.376-13_376-8dup
ENST00000683366.1:c.*50-13_*50-8dup	ENSP00000507283.1:n.*50-13_*50-8dup
ENST00000683887.1:c.366-13_366-8dup	ENSP00000506886.1:n.366-13_366-8dup
ENST00000684100.1:n.312-13_312-8dup
ENST00000684126.1:n.376-13_376-8dup
ENST00000684688.1:n.943-13_943-8dup
ENST00000204679.9:c.318-13_318-8dup MANE Select	ENSP00000204679.4:n.318-13_318-8dup
ENST00000204679.8:c.318-13_318-8dup	ENSP00000204679.4:n.318-13_318-8dup
ENST00000526820.5:c.*220-13_*220-8dup	ENSP00000434413.1:n.*220-13_*220-8dup
ENST00000527076.1:n.1334-13_1334-8dup
ENST00000527168.5:n.354-13_354-8dup
ENST00000529110.1:c.385-13_385-8dup
ENST00000529957.5:n.417-13_417-8dup
NM_032520.4:c.318-13_318-8dup	NP_115909.1:n.318-13_318-8dup
XM_017023782.1:c.366-13_366-8dup	XP_016879271.1:n.366-13_366-8dup
XM_017023783.1:c.-43-13_-43-8dup	XP_016879272.1:n.-43-13_-43-8dup
NM_032520.5:c.318-13_318-8dup MANE Select	NP_115909.1:n.318-13_318-8dup