Canonical Allele Identifier: CA2580090557

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2020779
• ClinVar RCV Id: RCV002857536

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362600_1362629dup , CM000678.2:g.1362600_1362629dup	GRCh38
NC_000016.9:g.1412601_1412630dup , CM000678.1:g.1412601_1412630dup	GRCh37
NC_000016.8:g.1352602_1352631dup	NCBI36
NG_016985.1:g.15702_15731dup
NG_033129.1:g.57076_57105dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.709-11_727dup
ENST00000529110.2:c.694-11_712dup
ENST00000529957.6:n.668-11_686dup
ENST00000683366.1:c.*342-11_*360dup
ENST00000683887.1:c.658-11_676dup
ENST00000684100.1:n.604-11_622dup
ENST00000684126.1:n.733_762dup
ENST00000684688.1:n.1235-11_1253dup
ENST00000204679.9:c.610-11_628dup
ENST00000204679.8:c.610-11_628dup
ENST00000527076.1:n.1822_1851dup
ENST00000527168.5:n.777-11_795dup
ENST00000529957.5:n.709-11_727dup
NM_032520.4:c.610-11_628dup
XM_017023782.1:c.658-11_676dup
XM_017023783.1:c.250-11_268dup
NM_032520.5:c.610-11_628dup