Canonical Allele Identifier: CA2805552401
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361866_1361873del , CM000678.2:g.1361866_1361873del GRCh38
NC_000016.9:g.1411867_1411874del , CM000678.1:g.1411867_1411874del GRCh37
NC_000016.8:g.1351868_1351875del NCBI36
NG_016985.1:g.14968_14975del
NG_033129.1:g.57834_57841del

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.333-6_334del
ENST00000529110.2:c.318-6_319del
ENST00000529957.6:n.292-6_293del
ENST00000683366.1:c.179-6_180del
ENST00000683887.1:c.282-6_283del
ENST00000684100.1:n.222_229del
ENST00000684126.1:n.292-6_293del
ENST00000684688.1:n.859-6_860del
ENST00000204679.9:c.234-6_235del
ENST00000204679.8:c.234-6_235del
ENST00000526820.5:c.*136-6_*137del
ENST00000527076.1:n.1244_1251del
ENST00000527168.5:n.270-6_271del
ENST00000529110.1:c.301-6_302del
ENST00000529957.5:n.333-6_334del
NM_032520.4:c.234-6_235del
XM_017023782.1:c.282-6_283del
XM_017023783.1:c.-127-6_-126del
NM_032520.5:c.234-6_235del