Canonical Allele Identifier: CA2201615465

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362900_1362929delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG , CM000678.2:g.1362900_1362929delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG	GRCh38
NC_000016.9:g.1412901_1412930delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG , CM000678.1:g.1412901_1412930delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG	GRCh37
NC_000016.8:g.1352902_1352931delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG	NCBI36
NG_016985.1:g.16002_16031delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG
NG_033129.1:g.56776_56805delinsCCCTCTCCCCACAGGTGACTCACCTGTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.916_922+23delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG
ENST00000529110.2:c.901_907+23delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG
ENST00000529957.6:n.875_881+23delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG
ENST00000683366.1:c.*549_*555+23delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG
ENST00000683887.1:c.865_871+23delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG
ENST00000684100.1:n.811_817+23delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG
ENST00000684126.1:n.951_957+23delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG
ENST00000684688.1:n.1442_1448+23delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG
ENST00000204679.9:c.817_823+23delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG
ENST00000204679.8:c.817_823+23delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG
ENST00000527076.1:n.2040_2046+23delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG
ENST00000527168.5:n.984_990+23delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG
NM_032520.4:c.817_823+23delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG
XM_017023782.1:c.865_871+23delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG
XM_017023783.1:c.457_463+23delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG
NM_032520.5:c.817_823+23delinsCCCACAGGTGAGTCACCTGTGGGGAGAGGG