Canonical Allele Identifier: CA2201615109
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362399_1362400delinsGC , CM000678.2:g.1362399_1362400delinsGC GRCh38
NC_000016.9:g.1412400_1412401delinsGC , CM000678.1:g.1412400_1412401delinsGC GRCh37
NC_000016.8:g.1352401_1352402delinsGC NCBI36
NG_016985.1:g.15501_15502delinsGC
NG_033129.1:g.57305_57306delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.626-53_626-52delinsGC
ENST00000529110.2:c.611-53_611-52delinsGC ENSP00000435349.2:n.611-53_611-52delinsGC
ENST00000529957.6:n.585-53_585-52delinsGC
ENST00000683366.1:c.*259-53_*259-52delinsGC ENSP00000507283.1:n.*259-53_*259-52delinsGC
ENST00000683887.1:c.575-53_575-52delinsGC ENSP00000506886.1:n.575-53_575-52delinsGC
ENST00000684100.1:n.521-53_521-52delinsGC
ENST00000684126.1:n.585-53_585-52delinsGC
ENST00000684688.1:n.1152-53_1152-52delinsGC
ENST00000204679.9:c.527-53_527-52delinsGC MANE Select ENSP00000204679.4:n.527-53_527-52delinsGC
ENST00000204679.8:c.527-53_527-52delinsGC ENSP00000204679.4:n.527-53_527-52delinsGC
ENST00000527076.1:n.1621_1622delinsGC
ENST00000527168.5:n.641_642delinsGC
ENST00000529957.5:n.626-53_626-52delinsGC
NM_032520.4:c.527-53_527-52delinsGC NP_115909.1:n.527-53_527-52delinsGC
XM_017023782.1:c.575-53_575-52delinsGC XP_016879271.1:n.575-53_575-52delinsGC
XM_017023783.1:c.167-53_167-52delinsGC XP_016879272.1:n.167-53_167-52delinsGC
NM_032520.5:c.527-53_527-52delinsGC MANE Select NP_115909.1:n.527-53_527-52delinsGC