Canonical Allele Identifier: CA718916287
Gene: UMOD HGNC NCBI

Linked Data

dbSNP Id: rs1217602809

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20343061_20343063del , CM000678.2:g.20343061_20343063del GRCh38
NC_000016.9:g.20354383_20354385del , CM000678.1:g.20354383_20354385del GRCh37
NC_000016.8:g.20261884_20261886del NCBI36
NG_008151.1:g.14655_14657del

Transcript Alleles

HGVS Amino-acid change
ENST00000396138.9:c.1331+963_1331+965del MANE Select ENSP00000379442.5:n.1331+963_1331+965del
ENST00000302509.8:c.1331+963_1331+965del ENSP00000306279.4:n.1331+963_1331+965del
ENST00000396134.6:c.1430+963_1430+965del ENSP00000379438.2:n.1430+963_1430+965del
ENST00000396138.8:c.1478+963_1478+965del ENSP00000379442.4:n.1478+963_1478+965del
ENST00000570689.5:c.1331+963_1331+965del ENSP00000460548.1:n.1331+963_1331+965del
NM_001008389.2:c.1331+963_1331+965del NP_001008390.1:n.1331+963_1331+965del
NM_001278614.1:c.1430+963_1430+965del NP_001265543.1:n.1430+963_1430+965del
NM_003361.3:c.1331+963_1331+965del NP_003352.2:n.1331+963_1331+965del
XM_011545934.1:c.1416-507_1416-505del XP_011544236.1:n.1416-507_1416-505del
XM_011545935.1:c.1332-507_1332-505del XP_011544237.1:n.1332-507_1332-505del
XM_011545936.1:c.1332-507_1332-505del XP_011544238.1:n.1332-507_1332-505del
XM_011545937.1:c.1332-507_1332-505del XP_011544239.1:n.1332-507_1332-505del
XM_011545938.1:c.1332-507_1332-505del XP_011544240.1:n.1332-507_1332-505del
XM_011545939.1:c.1415+963_1415+965del XP_011544241.1:n.1415+963_1415+965del
XM_011545940.1:c.1479-507_1479-505del XP_011544242.1:n.1479-507_1479-505del
XM_011545934.2:c.1332-507_1332-505del XP_011544236.2:n.1332-507_1332-505del
XM_011545940.2:c.1332-507_1332-505del XP_011544242.2:n.1332-507_1332-505del
XM_024450433.1:c.1332-507_1332-505del XP_024306201.1:n.1332-507_1332-505del
NM_001008389.3:c.1331+963_1331+965del NP_001008390.1:n.1331+963_1331+965del
NM_001278614.2:c.1430+963_1430+965del NP_001265543.1:n.1430+963_1430+965del
NM_001378232.1:c.1331+963_1331+965del NP_001365161.1:n.1331+963_1331+965del
NM_001378233.1:c.1331+963_1331+965del NP_001365162.1:n.1331+963_1331+965del
NM_001378234.1:c.1332-507_1332-505del NP_001365163.1:n.1332-507_1332-505del
NM_001378235.1:c.1332-507_1332-505del NP_001365164.1:n.1332-507_1332-505del
NM_003361.4:c.1331+963_1331+965del MANE Select NP_003352.2:n.1331+963_1331+965del
NR_165456.1:n.1554+963_1554+965del