Canonical Allele Identifier: CA2201615397
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362805_1362807delinsACT , CM000678.2:g.1362805_1362807delinsACT GRCh38
NC_000016.9:g.1412806_1412808delinsACT , CM000678.1:g.1412806_1412808delinsACT GRCh37
NC_000016.8:g.1352807_1352809delinsACT NCBI36
NG_016985.1:g.15907_15909delinsACT
NG_033129.1:g.56898_56900delinsAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.841-20_841-18delinsACT
ENST00000529110.2:c.826-20_826-18delinsACT ENSP00000435349.2:n.826-20_826-18delinsACT
ENST00000529957.6:n.800-20_800-18delinsACT
ENST00000683366.1:c.*474-20_*474-18delinsACT ENSP00000507283.1:n.*474-20_*474-18delinsACT
ENST00000683887.1:c.790-20_790-18delinsACT ENSP00000506886.1:n.790-20_790-18delinsACT
ENST00000684100.1:n.736-20_736-18delinsACT
ENST00000684126.1:n.876-20_876-18delinsACT
ENST00000684688.1:n.1367-20_1367-18delinsACT
ENST00000204679.9:c.742-20_742-18delinsACT MANE Select ENSP00000204679.4:n.742-20_742-18delinsACT
ENST00000204679.8:c.742-20_742-18delinsACT ENSP00000204679.4:n.742-20_742-18delinsACT
ENST00000527076.1:n.1965-20_1965-18delinsACT
ENST00000527168.5:n.909-20_909-18delinsACT
ENST00000529957.5:n.841-20_841-18delinsACT
NM_032520.4:c.742-20_742-18delinsACT NP_115909.1:n.742-20_742-18delinsACT
XM_017023782.1:c.790-20_790-18delinsACT XP_016879271.1:n.790-20_790-18delinsACT
XM_017023783.1:c.382-20_382-18delinsACT XP_016879272.1:n.382-20_382-18delinsACT
NM_032520.5:c.742-20_742-18delinsACT MANE Select NP_115909.1:n.742-20_742-18delinsACT