Canonical Allele Identifier: CA2630962137

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362928-G-GGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362930_1362933dup , CM000678.2:g.1362930_1362933dup	GRCh38
NC_000016.9:g.1412931_1412934dup , CM000678.1:g.1412931_1412934dup	GRCh37
NC_000016.8:g.1352932_1352935dup	NCBI36
NG_016985.1:g.16032_16035dup
NG_033129.1:g.56773_56776dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922+24_922+27dup
ENST00000529110.2:c.907+24_907+27dup	ENSP00000435349.2:n.907+24_907+27dup
ENST00000529957.6:n.881+24_881+27dup
ENST00000683366.1:c.*555+24_*555+27dup	ENSP00000507283.1:n.*555+24_*555+27dup
ENST00000683887.1:c.871+24_871+27dup	ENSP00000506886.1:n.871+24_871+27dup
ENST00000684100.1:n.817+24_817+27dup
ENST00000684126.1:n.957+24_957+27dup
ENST00000684688.1:n.1448+24_1448+27dup
ENST00000204679.9:c.823+24_823+27dup MANE Select	ENSP00000204679.4:n.823+24_823+27dup
ENST00000204679.8:c.823+24_823+27dup	ENSP00000204679.4:n.823+24_823+27dup
ENST00000527076.1:n.2046+24_2046+27dup
ENST00000527168.5:n.990+24_990+27dup
NM_032520.4:c.823+24_823+27dup	NP_115909.1:n.823+24_823+27dup
XM_017023782.1:c.871+24_871+27dup	XP_016879271.1:n.871+24_871+27dup
XM_017023783.1:c.463+24_463+27dup	XP_016879272.1:n.463+24_463+27dup
NM_032520.5:c.823+24_823+27dup MANE Select	NP_115909.1:n.823+24_823+27dup