Canonical Allele Identifier: CA2201615220
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362559_1362560delinsCT , CM000678.2:g.1362559_1362560delinsCT GRCh38
NC_000016.9:g.1412560_1412561delinsCT , CM000678.1:g.1412560_1412561delinsCT GRCh37
NC_000016.8:g.1352561_1352562delinsCT NCBI36
NG_016985.1:g.15661_15662delinsCT
NG_033129.1:g.57145_57146delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.708+25_708+26delinsCT
ENST00000529110.2:c.693+25_693+26delinsCT ENSP00000435349.2:n.693+25_693+26delinsCT
ENST00000529957.6:n.667+25_667+26delinsCT
ENST00000683366.1:c.*341+25_*341+26delinsCT ENSP00000507283.1:n.*341+25_*341+26delinsCT
ENST00000683887.1:c.657+25_657+26delinsCT ENSP00000506886.1:n.657+25_657+26delinsCT
ENST00000684100.1:n.603+25_603+26delinsCT
ENST00000684126.1:n.692_693delinsCT
ENST00000684688.1:n.1234+25_1234+26delinsCT
ENST00000204679.9:c.609+25_609+26delinsCT MANE Select ENSP00000204679.4:n.609+25_609+26delinsCT
ENST00000204679.8:c.609+25_609+26delinsCT ENSP00000204679.4:n.609+25_609+26delinsCT
ENST00000527076.1:n.1781_1782delinsCT
ENST00000527168.5:n.776+25_776+26delinsCT
ENST00000529957.5:n.708+25_708+26delinsCT
NM_032520.4:c.609+25_609+26delinsCT NP_115909.1:n.609+25_609+26delinsCT
XM_017023782.1:c.657+25_657+26delinsCT XP_016879271.1:n.657+25_657+26delinsCT
XM_017023783.1:c.249+25_249+26delinsCT XP_016879272.1:n.249+25_249+26delinsCT
NM_032520.5:c.609+25_609+26delinsCT MANE Select NP_115909.1:n.609+25_609+26delinsCT