Canonical Allele Identifier: CA253712

Linked Data

ClinVar Variation Id: 6034
ClinVar RCV Id: RCV000006405
dbSNP Id: rs121908633

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36233994_36233995delinsAC , CM000671.2:g.36233994_36233995delinsAC GRCh38
NC_000009.11:g.36233991_36233992delinsAC , CM000671.1:g.36233991_36233992delinsAC GRCh37
NC_000009.10:g.36223991_36223992delinsAC NCBI36
NG_008246.1:g.48050_48051delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000396594.8:c.1000_1001delinsGT (GNE) MANE Plus Clinical ENSP00000379839.3:p.Cys334Val
ENST00000543356.7:c.730_731delinsGT (GNE) ENSP00000437765.3:p.Cys244Val
ENST00000642385.2:c.907_908delinsGT (GNE) MANE Select ENSP00000494141.2:p.Cys303Val
ENST00000377902.5:c.907_908delinsGT (GNE) ENSP00000367134.4:p.Cys303Val
ENST00000396594.7:c.1000_1001delinsGT (GNE) ENSP00000379839.3:p.Cys334Val
ENST00000447283.6:c.907_908delinsGT (GNE) ENSP00000414760.2:p.Cys303Val
ENST00000464497.5:c.486-29204_486-29203delinsAC (CLTA) ENSP00000419158.1:n.486-29204_486-29203de...
ENST00000539208.5:c.577_578delinsGT (GNE) ENSP00000445117.1:p.Cys193Val
ENST00000539815.5:c.907_908delinsGT (GNE) ENSP00000439155.1:p.Cys303Val
ENST00000543356.6:c.892_893delinsGT (GNE) ENSP00000437765.2:p.Cys298Val
NM_001128227.2:c.1000_1001delinsGT (GNE) NP_001121699.1:p.Cys334Val
NM_001190383.1:c.907_908delinsGT (GNE) NP_001177312.1:p.Cys303Val
NM_001190384.1:c.577_578delinsGT (GNE) NP_001177313.1:p.Cys193Val
NM_001190388.1:c.892_893delinsGT (GNE) NP_001177317.1:p.Cys298Val
NM_005476.5:c.907_908delinsGT (GNE) NP_005467.1:p.Cys303Val
XM_005251334.3:c.847_848delinsGT (GNE) XP_005251391.1:p.Cys283Val
NM_001190383.2:c.907_908delinsGT (GNE) NP_001177312.1:p.Cys303Val
NM_001190384.2:c.577_578delinsGT (GNE) NP_001177313.1:p.Cys193Val
NM_005476.6:c.907_908delinsGT (GNE) NP_005467.1:p.Cys303Val
XM_005251334.4:c.847_848delinsGT (GNE) XP_005251391.1:p.Cys283Val
XM_017014167.1:c.907_908delinsGT (GNE) XP_016869656.1:p.Cys303Val
XM_017014168.1:c.754_755delinsGT (GNE) XP_016869657.1:p.Cys252Val
NM_001128227.3:c.1000_1001delinsGT (GNE) MANE Plus Clinical NP_001121699.1:p.Cys334Val
NM_001190383.3:c.907_908delinsGT (GNE) NP_001177312.1:p.Cys303Val
NM_001190384.3:c.577_578delinsGT (GNE) NP_001177313.1:p.Cys193Val
NM_001190388.2:c.730_731delinsGT (GNE) NP_001177317.2:p.Cys244Val
NM_001374797.1:c.754_755delinsGT (GNE) NP_001361726.1:p.Cys252Val
NM_001374798.1:c.730_731delinsGT (GNE) NP_001361727.1:p.Cys244Val
NM_005476.7:c.907_908delinsGT (GNE) MANE Select NP_005467.1:p.Cys303Val