Canonical Allele Identifier: CA16041310

Linked Data

ClinVar Variation Id: 370240
ClinVar RCV Id: RCV000409537
dbSNP Id: rs1057516340

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36222796_36222803del , CM000671.2:g.36222796_36222803del GRCh38
NC_000009.11:g.36222793_36222800del , CM000671.1:g.36222793_36222800del GRCh37
NC_000009.10:g.36212793_36212800del NCBI36
NG_008246.1:g.59244_59251del

Transcript Alleles

HGVS Amino-acid change
ENST00000396594.8:c.1702_1709del (GNE) MANE Plus Clinical ENSP00000379839.3:p.Phe568ThrfsTer16
ENST00000543356.7:c.1432_1439del (GNE) ENSP00000437765.3:p.Phe478ThrfsTer16
ENST00000642385.2:c.1609_1616del (GNE) MANE Select ENSP00000494141.2:p.Phe537ThrfsTer16
ENST00000377902.5:c.1609_1616del (GNE) ENSP00000367134.4:p.Phe537ThrfsTer16
ENST00000396594.7:c.1702_1709del (GNE) ENSP00000379839.3:p.Phe568ThrfsTer16
ENST00000447283.6:c.1411+572_1411+579del (GNE) ENSP00000414760.2:n.1411+572_1411+579del
ENST00000464497.5:c.485+18617_485+18624del (CLTA) ENSP00000419158.1:n.485+18617_485+18624de...
ENST00000539208.5:c.1279_1286del (GNE) ENSP00000445117.1:p.Phe427ThrfsTer16
ENST00000539815.5:c.1609_1616del (GNE) ENSP00000439155.1:p.Phe537ThrfsTer16
ENST00000543356.6:c.1594_1601del (GNE) ENSP00000437765.2:p.Phe532ThrfsTer16
NM_001128227.2:c.1702_1709del (GNE) NP_001121699.1:p.Phe568ThrfsTer16
NM_001190383.1:c.1411+572_1411+579del (GNE) NP_001177312.1:n.1411+572_1411+579del
NM_001190384.1:c.1279_1286del (GNE) NP_001177313.1:p.Phe427ThrfsTer16
NM_001190388.1:c.1594_1601del (GNE) NP_001177317.1:p.Phe532ThrfsTer16
NM_005476.5:c.1609_1616del (GNE) NP_005467.1:p.Phe537ThrfsTer16
XM_005251334.3:c.1549_1556del (GNE) XP_005251391.1:p.Phe517ThrfsTer16
NM_001190383.2:c.1411+572_1411+579del (GNE) NP_001177312.1:n.1411+572_1411+579del
NM_001190384.2:c.1279_1286del (GNE) NP_001177313.1:p.Phe427ThrfsTer16
NM_005476.6:c.1609_1616del (GNE) NP_005467.1:p.Phe537ThrfsTer16
XM_005251334.4:c.1549_1556del (GNE) XP_005251391.1:p.Phe517ThrfsTer16
XM_017014167.1:c.1609_1616del (GNE) XP_016869656.1:p.Phe537ThrfsTer16
XM_017014168.1:c.1456_1463del (GNE) XP_016869657.1:p.Phe486ThrfsTer16
NM_001128227.3:c.1702_1709del (GNE) MANE Plus Clinical NP_001121699.1:p.Phe568ThrfsTer16
NM_001190383.3:c.1411+572_1411+579del (GNE) NP_001177312.1:n.1411+572_1411+579del
NM_001190384.3:c.1279_1286del (GNE) NP_001177313.1:p.Phe427ThrfsTer16
NM_001190388.2:c.1432_1439del (GNE) NP_001177317.2:p.Phe478ThrfsTer16
NM_001374797.1:c.1456_1463del (GNE) NP_001361726.1:p.Phe486ThrfsTer16
NM_001374798.1:c.1432_1439del (GNE) NP_001361727.1:p.Phe478ThrfsTer16
NM_005476.7:c.1609_1616del (GNE) MANE Select NP_005467.1:p.Phe537ThrfsTer16