Canonical Allele Identifier: CA2201615143
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362445_1362455delinsTCCTCAGTGTA , CM000678.2:g.1362445_1362455delinsTCCTCAGTGTA GRCh38
NC_000016.9:g.1412446_1412456delinsTCCTCAGTGTA , CM000678.1:g.1412446_1412456delinsTCCTCAGTGTA GRCh37
NC_000016.8:g.1352447_1352457delinsTCCTCAGTGTA NCBI36
NG_016985.1:g.15547_15557delinsTCCTCAGTGTA
NG_033129.1:g.57250_57260delinsTACACTGAGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.626-7_629delinsTCCTCAGTGTA
ENST00000529110.2:c.611-7_614delinsTCCTCAGTGTA
ENST00000529957.6:n.585-7_588delinsTCCTCAGTGTA
ENST00000683366.1:c.*259-7_*262delinsTCCTCAGTGTA
ENST00000683887.1:c.575-7_578delinsTCCTCAGTGTA
ENST00000684100.1:n.521-7_524delinsTCCTCAGTGTA
ENST00000684126.1:n.585-7_588delinsTCCTCAGTGTA
ENST00000684688.1:n.1152-7_1155delinsTCCTCAGTGTA
ENST00000204679.9:c.527-7_530delinsTCCTCAGTGTA
ENST00000204679.8:c.527-7_530delinsTCCTCAGTGTA
ENST00000527076.1:n.1667_1677delinsTCCTCAGTGTA
ENST00000527168.5:n.687_697delinsTCCTCAGTGTA
ENST00000529957.5:n.626-7_629delinsTCCTCAGTGTA
NM_032520.4:c.527-7_530delinsTCCTCAGTGTA
XM_017023782.1:c.575-7_578delinsTCCTCAGTGTA
XM_017023783.1:c.167-7_170delinsTCCTCAGTGTA
NM_032520.5:c.527-7_530delinsTCCTCAGTGTA