Canonical Allele Identifier: CA2630962098
Gene: GNPTG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362914del , CM000678.2:g.1362914del GRCh38
NC_000016.9:g.1412915del , CM000678.1:g.1412915del GRCh37
NC_000016.8:g.1352916del NCBI36
NG_016985.1:g.16016del
NG_033129.1:g.56791del

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.922+8del
ENST00000529110.2:c.907+8del ENSP00000435349.2:n.907+8del
ENST00000529957.6:n.881+8del
ENST00000683366.1:c.*555+8del ENSP00000507283.1:n.*555+8del
ENST00000683887.1:c.871+8del ENSP00000506886.1:n.871+8del
ENST00000684100.1:n.817+8del
ENST00000684126.1:n.957+8del
ENST00000684688.1:n.1448+8del
ENST00000204679.9:c.823+8del MANE Select ENSP00000204679.4:n.823+8del
ENST00000204679.8:c.823+8del ENSP00000204679.4:n.823+8del
ENST00000527076.1:n.2046+8del
ENST00000527168.5:n.990+8del
NM_032520.4:c.823+8del NP_115909.1:n.823+8del
XM_017023782.1:c.871+8del XP_016879271.1:n.871+8del
XM_017023783.1:c.463+8del XP_016879272.1:n.463+8del
NM_032520.5:c.823+8del MANE Select NP_115909.1:n.823+8del