Canonical Allele Identifier: CA2731772859
Gene: GNPTG HGNC NCBI

Linked Data

dbSNP Id: rs2141861666

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361730_1361731del , CM000678.2:g.1361730_1361731del GRCh38
NC_000016.9:g.1411731_1411732del , CM000678.1:g.1411731_1411732del GRCh37
NC_000016.8:g.1351732_1351733del NCBI36
NG_016985.1:g.14832_14833del
NG_033129.1:g.57975_57976del

Transcript Alleles

HGVS Amino-acid change
ENST00000527168.6:n.278-13_278-12del
ENST00000529110.2:c.263-13_263-12del ENSP00000435349.2:n.263-13_263-12del
ENST00000529957.6:n.237-13_237-12del
ENST00000683366.1:c.179-142_179-141del ENSP00000507283.1:n.179-142_179-141del
ENST00000683887.1:c.214_215del ENSP00000506886.1:p.Arg72ValfsTer26
ENST00000684100.1:n.86_87del
ENST00000684126.1:n.237-13_237-12del
ENST00000684688.1:n.791_792del
ENST00000204679.9:c.179-13_179-12del MANE Select ENSP00000204679.4:n.179-13_179-12del
ENST00000204679.8:c.179-13_179-12del ENSP00000204679.4:n.179-13_179-12del
ENST00000526820.5:c.*81-13_*81-12del ENSP00000434413.1:n.*81-13_*81-12del
ENST00000527076.1:n.1108_1109del
ENST00000527168.5:n.270-142_270-141del
ENST00000529110.1:c.246-13_246-12del
ENST00000529957.5:n.278-13_278-12del
NM_032520.4:c.179-13_179-12del NP_115909.1:n.179-13_179-12del
XM_017023782.1:c.214_215del XP_016879271.1:p.Arg72ValfsTer26
XM_017023783.1:c.-182-13_-182-12del XP_016879272.1:n.-182-13_-182-12del
NM_032520.5:c.179-13_179-12del MANE Select NP_115909.1:n.179-13_179-12del