Canonical Allele Identifier: CA10583988
Gene: UMOD HGNC NCBI

Linked Data

ClinVar Variation Id: 242346
dbSNP Id: rs878855325

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20349012_20349023delinsAGGAGGCGG , CM000678.2:g.20349012_20349023delinsAGGAGGCGG GRCh38
NC_000016.9:g.20360334_20360345delinsAGGAGGCGG , CM000678.1:g.20360334_20360345delinsAGGAGGCGG GRCh37
NC_000016.8:g.20267835_20267846delinsAGGAGGCGG NCBI36
NG_008151.1:g.8693_8704delinsCCGCCTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000396138.9:c.278_289delinsCCGCCTCCT MANE Select ENSP00000379442.5:p.Val93_Gly97delinsAlaAlaSerCys
ENST00000577168.2:c.278_289delinsCCGCCTCCT ENSP00000459738.2:p.Val93_Gly97delinsAlaAlaSerCys
ENST00000302509.8:c.278_289delinsCCGCCTCCT ENSP00000306279.4:p.Val93_Gly97delinsAlaAlaSerCys
ENST00000396134.6:c.377_388delinsCCGCCTCCT ENSP00000379438.2:p.Val126_Gly130delinsAlaAlaSerCys
ENST00000396138.8:c.425_436delinsCCGCCTCCT ENSP00000379442.4:p.Val142_Gly146delinsAlaAlaSerCys
ENST00000570689.5:c.278_289delinsCCGCCTCCT ENSP00000460548.1:p.Val93_Gly97delinsAlaAlaSerCys
ENST00000571174.5:c.278_289delinsCCGCCTCCT ENSP00000458939.1:p.Val93_Gly97delinsAlaAlaSerCys
ENST00000573567.5:c.347_358delinsCCGCCTCCT ENSP00000460374.1:p.Val116_Gly120delinsAlaAlaSerCys
ENST00000574195.5:c.440_451delinsCCGCCTCCT ENSP00000460845.1:p.Val147_Gly151delinsAlaAlaSerCys
ENST00000576688.2:c.278_289delinsCCGCCTCCT ENSP00000461641.1:p.Val93_Gly97delinsAlaAlaSerCys
ENST00000577168.1:c.362_373delinsCCGCCTCCT ENSP00000459738.1:p.Val121_Gly125delinsAlaAlaSerCys
NM_001008389.2:c.278_289delinsCCGCCTCCT NP_001008390.1:p.Val93_Gly97delinsAlaAlaSerCys
NM_001278614.1:c.377_388delinsCCGCCTCCT NP_001265543.1:p.Val126_Gly130delinsAlaAlaSerCys
NM_003361.3:c.278_289delinsCCGCCTCCT NP_003352.2:p.Val93_Gly97delinsAlaAlaSerCys
XM_011545934.1:c.362_373delinsCCGCCTCCT XP_011544236.1:p.Val121_Gly125delinsAlaAlaSerCys
XM_011545935.1:c.278_289delinsCCGCCTCCT XP_011544237.1:p.Val93_Gly97delinsAlaAlaSerCys
XM_011545936.1:c.278_289delinsCCGCCTCCT XP_011544238.1:p.Val93_Gly97delinsAlaAlaSerCys
XM_011545937.1:c.278_289delinsCCGCCTCCT XP_011544239.1:p.Val93_Gly97delinsAlaAlaSerCys
XM_011545938.1:c.278_289delinsCCGCCTCCT XP_011544240.1:p.Val93_Gly97delinsAlaAlaSerCys
XM_011545939.1:c.362_373delinsCCGCCTCCT XP_011544241.1:p.Val121_Gly125delinsAlaAlaSerCys
XM_011545940.1:c.425_436delinsCCGCCTCCT XP_011544242.1:p.Val142_Gly146delinsAlaAlaSerCys
XM_011545934.2:c.278_289delinsCCGCCTCCT XP_011544236.2:p.Val93_Gly97delinsAlaAlaSerCys
XM_011545940.2:c.278_289delinsCCGCCTCCT XP_011544242.2:p.Val93_Gly97delinsAlaAlaSerCys
XM_024450433.1:c.278_289delinsCCGCCTCCT XP_024306201.1:p.Val93_Gly97delinsAlaAlaSerCys
NM_001008389.3:c.278_289delinsCCGCCTCCT NP_001008390.1:p.Val93_Gly97delinsAlaAlaSerCys
NM_001278614.2:c.377_388delinsCCGCCTCCT NP_001265543.1:p.Val126_Gly130delinsAlaAlaSerCys
NM_001378232.1:c.278_289delinsCCGCCTCCT NP_001365161.1:p.Val93_Gly97delinsAlaAlaSerCys
NM_001378233.1:c.278_289delinsCCGCCTCCT NP_001365162.1:p.Val93_Gly97delinsAlaAlaSerCys
NM_001378234.1:c.278_289delinsCCGCCTCCT NP_001365163.1:p.Val93_Gly97delinsAlaAlaSerCys
NM_001378235.1:c.278_289delinsCCGCCTCCT NP_001365164.1:p.Val93_Gly97delinsAlaAlaSerCys
NM_001378237.1:c.278_289delinsCCGCCTCCT NP_001365166.1:p.Val93_Gly97delinsAlaAlaSerCys
NM_003361.4:c.278_289delinsCCGCCTCCT MANE Select NP_003352.2:p.Val93_Gly97delinsAlaAlaSerCys
NR_165456.1:n.503_514delinsCCGCCTCCT