Canonical Allele Identifier: CA2630960427

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362370-GCCCTGCTGGAGGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362371_1362385del , CM000678.2:g.1362371_1362385del	GRCh38
NC_000016.9:g.1412372_1412386del , CM000678.1:g.1412372_1412386del	GRCh37
NC_000016.8:g.1352373_1352387del	NCBI36
NG_016985.1:g.15473_15487del
NG_033129.1:g.57320_57334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+51_625+65del
ENST00000529110.2:c.610+51_610+65del	ENSP00000435349.2:n.610+51_610+65del
ENST00000529957.6:n.584+51_584+65del
ENST00000683366.1:c.*258+51_*258+65del	ENSP00000507283.1:n.*258+51_*258+65del
ENST00000683887.1:c.574+51_574+65del	ENSP00000506886.1:n.574+51_574+65del
ENST00000684100.1:n.520+51_520+65del
ENST00000684126.1:n.584+51_584+65del
ENST00000684688.1:n.1151+51_1151+65del
ENST00000204679.9:c.526+51_526+65del MANE Select	ENSP00000204679.4:n.526+51_526+65del
ENST00000204679.8:c.526+51_526+65del	ENSP00000204679.4:n.526+51_526+65del
ENST00000527076.1:n.1593_1607del
ENST00000527168.5:n.613_627del
ENST00000529957.5:n.625+51_625+65del
NM_032520.4:c.526+51_526+65del	NP_115909.1:n.526+51_526+65del
XM_017023782.1:c.574+51_574+65del	XP_016879271.1:n.574+51_574+65del
XM_017023783.1:c.166+51_166+65del	XP_016879272.1:n.166+51_166+65del
NM_032520.5:c.526+51_526+65del MANE Select	NP_115909.1:n.526+51_526+65del