Canonical Allele Identifier: CA2805552051
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362794_1362796del , CM000678.2:g.1362794_1362796del GRCh38
NC_000016.9:g.1412795_1412797del , CM000678.1:g.1412795_1412797del GRCh37
NC_000016.8:g.1352796_1352798del NCBI36
NG_016985.1:g.15896_15898del
NG_033129.1:g.56909_56911del

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.841-31_841-29del
ENST00000529110.2:c.826-31_826-29del ENSP00000435349.2:n.826-31_826-29del
ENST00000529957.6:n.800-31_800-29del
ENST00000683366.1:c.*474-31_*474-29del ENSP00000507283.1:n.*474-31_*474-29del
ENST00000683887.1:c.790-31_790-29del ENSP00000506886.1:n.790-31_790-29del
ENST00000684100.1:n.736-31_736-29del
ENST00000684126.1:n.876-31_876-29del
ENST00000684688.1:n.1367-31_1367-29del
ENST00000204679.9:c.742-31_742-29del MANE Select ENSP00000204679.4:n.742-31_742-29del
ENST00000204679.8:c.742-31_742-29del ENSP00000204679.4:n.742-31_742-29del
ENST00000527076.1:n.1965-31_1965-29del
ENST00000527168.5:n.909-31_909-29del
ENST00000529957.5:n.841-31_841-29del
NM_032520.4:c.742-31_742-29del NP_115909.1:n.742-31_742-29del
XM_017023782.1:c.790-31_790-29del XP_016879271.1:n.790-31_790-29del
XM_017023783.1:c.382-31_382-29del XP_016879272.1:n.382-31_382-29del
NM_032520.5:c.742-31_742-29del MANE Select NP_115909.1:n.742-31_742-29del