Canonical Allele Identifier: CA2575866952
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362789del , CM000678.2:g.1362789del GRCh38
NC_000016.9:g.1412790del , CM000678.1:g.1412790del GRCh37
NC_000016.8:g.1352791del NCBI36
NG_016985.1:g.15891del
NG_033129.1:g.56917del

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.841-36del
ENST00000529110.2:c.826-36del ENSP00000435349.2:n.826-36del
ENST00000529957.6:n.800-36del
ENST00000683366.1:c.*474-36del ENSP00000507283.1:n.*474-36del
ENST00000683887.1:c.790-36del ENSP00000506886.1:n.790-36del
ENST00000684100.1:n.736-36del
ENST00000684126.1:n.876-36del
ENST00000684688.1:n.1367-36del
ENST00000204679.9:c.742-36del MANE Select ENSP00000204679.4:n.742-36del
ENST00000204679.8:c.742-36del ENSP00000204679.4:n.742-36del
ENST00000527076.1:n.1965-36del
ENST00000527168.5:n.909-36del
ENST00000529957.5:n.841-36del
NM_032520.4:c.742-36del NP_115909.1:n.742-36del
XM_017023782.1:c.790-36del XP_016879271.1:n.790-36del
XM_017023783.1:c.382-36del XP_016879272.1:n.382-36del
NM_032520.5:c.742-36del MANE Select NP_115909.1:n.742-36del