Canonical Allele Identifier: CA2630960004

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362292-C-CCTCGTCTGCCACCCCCACGCCTTGCTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362293_1362320dup , CM000678.2:g.1362293_1362320dup	GRCh38
NC_000016.9:g.1412294_1412321dup , CM000678.1:g.1412294_1412321dup	GRCh37
NC_000016.8:g.1352295_1352322dup	NCBI36
NG_016985.1:g.15395_15422dup
NG_033129.1:g.57385_57412dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.598_625dup
ENST00000529110.2:c.583_610dup	ENSP00000435349.2:p.Val204AlafsTer32
ENST00000529957.6:n.557_584dup
ENST00000683366.1:c.*231_*258dup	ENSP00000507283.1:n.*231_*258dup
ENST00000683887.1:c.547_574dup	ENSP00000506886.1:p.Val192AlafsTer32
ENST00000684100.1:n.493_520dup
ENST00000684126.1:n.557_584dup
ENST00000684688.1:n.1124_1151dup
ENST00000204679.9:c.499_526dup MANE Select	ENSP00000204679.4:p.Val176AlafsTer32
ENST00000204679.8:c.499_526dup	ENSP00000204679.4:p.Val176AlafsTer32
ENST00000527076.1:n.1515_1542dup
ENST00000527168.5:n.535_562dup
ENST00000529957.5:n.598_625dup
NM_032520.4:c.499_526dup	NP_115909.1:p.Val176AlafsTer32
XM_017023782.1:c.547_574dup	XP_016879271.1:p.Val192AlafsTer32
XM_017023783.1:c.139_166dup	XP_016879272.1:p.Val56AlafsTer32
NM_032520.5:c.499_526dup MANE Select	NP_115909.1:p.Val176AlafsTer32