Canonical Allele Identifier: CA1139660951

Linked Data

ClinVar Variation Id: 944084
ClinVar RCV Id: RCV001214407
dbSNP Id: rs1828507134

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36219872_36219883del , CM000671.2:g.36219872_36219883del GRCh38
NC_000009.11:g.36219869_36219880del , CM000671.1:g.36219869_36219880del GRCh37
NC_000009.10:g.36209869_36209880del NCBI36
NG_008246.1:g.62166_62177del

Transcript Alleles

HGVS Amino-acid change
ENST00000396594.8:c.1868_1879del (GNE) MANE Plus Clinical ENSP00000379839.3:p.Ser623_Ala626del
ENST00000543356.7:c.1598_1609del (GNE) ENSP00000437765.3:p.Ser533_Ala536del
ENST00000642385.2:c.1775_1786del (GNE) MANE Select ENSP00000494141.2:p.Ser592_Ala595del
ENST00000377902.5:c.1775_1786del (GNE) ENSP00000367134.4:p.Ser592_Ala595del
ENST00000396594.7:c.1868_1879del (GNE) ENSP00000379839.3:p.Ser623_Ala626del
ENST00000447283.6:c.1553_1564del (GNE) ENSP00000414760.2:p.Ser518_Ala521del
ENST00000464497.5:c.485+15693_485+15704del (CLTA) ENSP00000419158.1:n.485+15693_485+15704de...
ENST00000539208.5:c.1445_1456del (GNE) ENSP00000445117.1:p.Ser482_Ala485del
ENST00000539815.5:c.1775_1786del (GNE) ENSP00000439155.1:p.Ser592_Ala595del
ENST00000543356.6:c.1760_1771del (GNE) ENSP00000437765.2:p.Ser587_Ala590del
NM_001128227.2:c.1868_1879del (GNE) NP_001121699.1:p.Ser623_Ala626del
NM_001190383.1:c.1553_1564del (GNE) NP_001177312.1:p.Ser518_Ala521del
NM_001190384.1:c.1445_1456del (GNE) NP_001177313.1:p.Ser482_Ala485del
NM_001190388.1:c.1760_1771del (GNE) NP_001177317.1:p.Ser587_Ala590del
NM_005476.5:c.1775_1786del (GNE) NP_005467.1:p.Ser592_Ala595del
XM_005251334.3:c.1715_1726del (GNE) XP_005251391.1:p.Ser572_Ala575del
NM_001190383.2:c.1553_1564del (GNE) NP_001177312.1:p.Ser518_Ala521del
NM_001190384.2:c.1445_1456del (GNE) NP_001177313.1:p.Ser482_Ala485del
NM_005476.6:c.1775_1786del (GNE) NP_005467.1:p.Ser592_Ala595del
XM_005251334.4:c.1715_1726del (GNE) XP_005251391.1:p.Ser572_Ala575del
XM_017014167.1:c.1775_1786del (GNE) XP_016869656.1:p.Ser592_Ala595del
XM_017014168.1:c.1622_1633del (GNE) XP_016869657.1:p.Ser541_Ala544del
NM_001128227.3:c.1868_1879del (GNE) MANE Plus Clinical NP_001121699.1:p.Ser623_Ala626del
NM_001190383.3:c.1553_1564del (GNE) NP_001177312.1:p.Ser518_Ala521del
NM_001190384.3:c.1445_1456del (GNE) NP_001177313.1:p.Ser482_Ala485del
NM_001190388.2:c.1598_1609del (GNE) NP_001177317.2:p.Ser533_Ala536del
NM_001374797.1:c.1622_1633del (GNE) NP_001361726.1:p.Ser541_Ala544del
NM_001374798.1:c.1598_1609del (GNE) NP_001361727.1:p.Ser533_Ala536del
NM_005476.7:c.1775_1786del (GNE) MANE Select NP_005467.1:p.Ser592_Ala595del