Canonical Allele Identifier: CA2842338280

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36219749dup , CM000671.2:g.36219749dup GRCh38
NC_000009.11:g.36219746dup , CM000671.1:g.36219746dup GRCh37
NC_000009.10:g.36209746dup NCBI36
NG_008246.1:g.62297dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000396594.8:c.1909+90dup (GNE) MANE Plus Clinical ENSP00000379839.3:n.1909+90dup
ENST00000543356.7:c.1639+90dup (GNE) ENSP00000437765.3:n.1639+90dup
ENST00000642385.2:c.1816+90dup (GNE) MANE Select ENSP00000494141.2:n.1816+90dup
ENST00000377902.5:c.1816+90dup (GNE) ENSP00000367134.4:n.1816+90dup
ENST00000396594.7:c.1909+90dup (GNE) ENSP00000379839.3:n.1909+90dup
ENST00000447283.6:c.1594+90dup (GNE) ENSP00000414760.2:n.1594+90dup
ENST00000464497.5:c.485+15570dup (CLTA) ENSP00000419158.1:n.485+15570dup
ENST00000539208.5:c.1486+90dup (GNE) ENSP00000445117.1:n.1486+90dup
ENST00000539815.5:c.1816+90dup (GNE) ENSP00000439155.1:n.1816+90dup
ENST00000543356.6:c.1801+90dup (GNE) ENSP00000437765.2:n.1801+90dup
NM_001128227.2:c.1909+90dup (GNE) NP_001121699.1:n.1909+90dup
NM_001190383.1:c.1594+90dup (GNE) NP_001177312.1:n.1594+90dup
NM_001190384.1:c.1486+90dup (GNE) NP_001177313.1:n.1486+90dup
NM_001190388.1:c.1801+90dup (GNE) NP_001177317.1:n.1801+90dup
NM_005476.5:c.1816+90dup (GNE) NP_005467.1:n.1816+90dup
XM_005251334.3:c.1756+90dup (GNE) XP_005251391.1:n.1756+90dup
NM_001190383.2:c.1594+90dup (GNE) NP_001177312.1:n.1594+90dup
NM_001190384.2:c.1486+90dup (GNE) NP_001177313.1:n.1486+90dup
NM_005476.6:c.1816+90dup (GNE) NP_005467.1:n.1816+90dup
XM_005251334.4:c.1756+90dup (GNE) XP_005251391.1:n.1756+90dup
XM_017014167.1:c.1816+90dup (GNE) XP_016869656.1:n.1816+90dup
XM_017014168.1:c.1663+90dup (GNE) XP_016869657.1:n.1663+90dup
NM_001128227.3:c.1909+90dup (GNE) MANE Plus Clinical NP_001121699.1:n.1909+90dup
NM_001190383.3:c.1594+90dup (GNE) NP_001177312.1:n.1594+90dup
NM_001190384.3:c.1486+90dup (GNE) NP_001177313.1:n.1486+90dup
NM_001190388.2:c.1639+90dup (GNE) NP_001177317.2:n.1639+90dup
NM_001374797.1:c.1663+90dup (GNE) NP_001361726.1:n.1663+90dup
NM_001374798.1:c.1639+90dup (GNE) NP_001361727.1:n.1639+90dup
NM_005476.7:c.1816+90dup (GNE) MANE Select NP_005467.1:n.1816+90dup