Canonical Allele Identifier: CA2630959213

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362013-A-ACGTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362020_1362024dup , CM000678.2:g.1362020_1362024dup	GRCh38
NC_000016.9:g.1412021_1412025dup , CM000678.1:g.1412021_1412025dup	GRCh37
NC_000016.8:g.1352022_1352026dup	NCBI36
NG_016985.1:g.15122_15126dup
NG_033129.1:g.57687_57691dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.417-18_417-14dup
ENST00000529110.2:c.402-18_402-14dup	ENSP00000435349.2:n.402-18_402-14dup
ENST00000529957.6:n.376-18_376-14dup
ENST00000683366.1:c.*50-18_*50-14dup	ENSP00000507283.1:n.*50-18_*50-14dup
ENST00000683887.1:c.366-18_366-14dup	ENSP00000506886.1:n.366-18_366-14dup
ENST00000684100.1:n.312-18_312-14dup
ENST00000684126.1:n.376-18_376-14dup
ENST00000684688.1:n.943-18_943-14dup
ENST00000204679.9:c.318-18_318-14dup MANE Select	ENSP00000204679.4:n.318-18_318-14dup
ENST00000204679.8:c.318-18_318-14dup	ENSP00000204679.4:n.318-18_318-14dup
ENST00000526820.5:c.*220-18_*220-14dup	ENSP00000434413.1:n.*220-18_*220-14dup
ENST00000527076.1:n.1334-18_1334-14dup
ENST00000527168.5:n.354-18_354-14dup
ENST00000529110.1:c.385-18_385-14dup
ENST00000529957.5:n.417-18_417-14dup
NM_032520.4:c.318-18_318-14dup	NP_115909.1:n.318-18_318-14dup
XM_017023782.1:c.366-18_366-14dup	XP_016879271.1:n.366-18_366-14dup
XM_017023783.1:c.-43-18_-43-14dup	XP_016879272.1:n.-43-18_-43-14dup
NM_032520.5:c.318-18_318-14dup MANE Select	NP_115909.1:n.318-18_318-14dup