Canonical Allele Identifier: CA16041322

Linked Data

ClinVar Variation Id: 370983
ClinVar RCV Id: RCV000411234
dbSNP Id: rs1057516915

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36246211_36246214del , CM000671.2:g.36246211_36246214del GRCh38
NC_000009.11:g.36246208_36246211del , CM000671.1:g.36246208_36246211del GRCh37
NC_000009.10:g.36236208_36236211del NCBI36
NG_008246.1:g.35833_35836del

Transcript Alleles

HGVS Amino-acid change
ENST00000396594.8:c.528_531del (GNE) MANE Plus Clinical ENSP00000379839.3:p.Ile177AspfsTer4
ENST00000543356.7:c.258_261del (GNE) ENSP00000437765.3:p.Ile87AspfsTer4
ENST00000642385.2:c.435_438del (GNE) MANE Select ENSP00000494141.2:p.Ile146AspfsTer4
ENST00000377902.5:c.435_438del (GNE) ENSP00000367134.4:p.Ile146AspfsTer4
ENST00000396594.7:c.528_531del (GNE) ENSP00000379839.3:p.Ile177AspfsTer4
ENST00000447283.6:c.435_438del (GNE) ENSP00000414760.2:p.Ile146AspfsTer4
ENST00000464497.5:c.486-16987_486-16984del (CLTA) ENSP00000419158.1:n.486-16987_486-16984de...
ENST00000539208.5:c.258_261del (GNE) ENSP00000445117.1:p.Ile87AspfsTer4
ENST00000539815.5:c.435_438del (GNE) ENSP00000439155.1:p.Ile146AspfsTer4
ENST00000543356.6:c.420_423del (GNE) ENSP00000437765.2:p.Ile141AspfsTer4
NM_001128227.2:c.528_531del (GNE) NP_001121699.1:p.Ile177AspfsTer4
NM_001190383.1:c.435_438del (GNE) NP_001177312.1:p.Ile146AspfsTer4
NM_001190384.1:c.258_261del (GNE) NP_001177313.1:p.Ile87AspfsTer4
NM_001190388.1:c.420_423del (GNE) NP_001177317.1:p.Ile141AspfsTer4
NM_005476.5:c.435_438del (GNE) NP_005467.1:p.Ile146AspfsTer4
XM_005251334.3:c.528_531del (GNE) XP_005251391.1:p.Ile177AspfsTer4
NM_001190383.2:c.435_438del (GNE) NP_001177312.1:p.Ile146AspfsTer4
NM_001190384.2:c.258_261del (GNE) NP_001177313.1:p.Ile87AspfsTer4
NM_005476.6:c.435_438del (GNE) NP_005467.1:p.Ile146AspfsTer4
XM_005251334.4:c.528_531del (GNE) XP_005251391.1:p.Ile177AspfsTer4
XM_017014167.1:c.435_438del (GNE) XP_016869656.1:p.Ile146AspfsTer4
XM_017014168.1:c.435_438del (GNE) XP_016869657.1:p.Ile146AspfsTer4
NM_001128227.3:c.528_531del (GNE) MANE Plus Clinical NP_001121699.1:p.Ile177AspfsTer4
NM_001190383.3:c.435_438del (GNE) NP_001177312.1:p.Ile146AspfsTer4
NM_001190384.3:c.258_261del (GNE) NP_001177313.1:p.Ile87AspfsTer4
NM_001190388.2:c.258_261del (GNE) NP_001177317.2:p.Ile87AspfsTer4
NM_001374797.1:c.435_438del (GNE) NP_001361726.1:p.Ile146AspfsTer4
NM_001374798.1:c.258_261del (GNE) NP_001361727.1:p.Ile87AspfsTer4
NM_005476.7:c.435_438del (GNE) MANE Select NP_005467.1:p.Ile146AspfsTer4