Canonical Allele Identifier: CA7939377

Gene: UMOD

Linked Data

• dbSNP Id: rs748789523
• ExAC: 16:20359696 C / CCCCGT
• gnomAD v2: 16-20359696-C-CCCCGT
• gnomAD v3: 16-20348374-C-CCCCGT
• gnomAD v4: 16-20348374-C-CCCCGT
• MyVariant Identifiers: chr16:g.20359696_20359697insCCCGT (hg19) ; chr16:g.20348374_20348375insCCCGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20348377_20348381dup , CM000678.2:g.20348377_20348381dup	GRCh38
NC_000016.9:g.20359699_20359703dup , CM000678.1:g.20359699_20359703dup	GRCh37
NC_000016.8:g.20267200_20267204dup	NCBI36
NG_008151.1:g.9337_9341dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396138.9:c.866-49_866-45dup MANE Select	ENSP00000379442.5:n.866-49_866-45dup
ENST00000302509.8:c.866-49_866-45dup	ENSP00000306279.4:n.866-49_866-45dup
ENST00000396134.6:c.965-49_965-45dup	ENSP00000379438.2:n.965-49_965-45dup
ENST00000396138.8:c.1013-49_1013-45dup	ENSP00000379442.4:n.1013-49_1013-45dup
ENST00000570689.5:c.866-49_866-45dup	ENSP00000460548.1:n.866-49_866-45dup
NM_001008389.2:c.866-49_866-45dup	NP_001008390.1:n.866-49_866-45dup
NM_001278614.1:c.965-49_965-45dup	NP_001265543.1:n.965-49_965-45dup
NM_003361.3:c.866-49_866-45dup	NP_003352.2:n.866-49_866-45dup
XM_011545934.1:c.950-49_950-45dup	XP_011544236.1:n.950-49_950-45dup
XM_011545935.1:c.866-49_866-45dup	XP_011544237.1:n.866-49_866-45dup
XM_011545936.1:c.866-49_866-45dup	XP_011544238.1:n.866-49_866-45dup
XM_011545937.1:c.866-49_866-45dup	XP_011544239.1:n.866-49_866-45dup
XM_011545938.1:c.866-49_866-45dup	XP_011544240.1:n.866-49_866-45dup
XM_011545939.1:c.950-49_950-45dup	XP_011544241.1:n.950-49_950-45dup
XM_011545940.1:c.1013-49_1013-45dup	XP_011544242.1:n.1013-49_1013-45dup
XM_011545934.2:c.866-49_866-45dup	XP_011544236.2:n.866-49_866-45dup
XM_011545940.2:c.866-49_866-45dup	XP_011544242.2:n.866-49_866-45dup
XM_024450433.1:c.866-49_866-45dup	XP_024306201.1:n.866-49_866-45dup
NM_001008389.3:c.866-49_866-45dup	NP_001008390.1:n.866-49_866-45dup
NM_001278614.2:c.965-49_965-45dup	NP_001265543.1:n.965-49_965-45dup
NM_001378232.1:c.866-49_866-45dup	NP_001365161.1:n.866-49_866-45dup
NM_001378233.1:c.866-49_866-45dup	NP_001365162.1:n.866-49_866-45dup
NM_001378234.1:c.866-49_866-45dup	NP_001365163.1:n.866-49_866-45dup
NM_001378235.1:c.866-49_866-45dup	NP_001365164.1:n.866-49_866-45dup
NM_001378237.1:c.866-49_866-45dup	NP_001365166.1:n.866-49_866-45dup
NM_003361.4:c.866-49_866-45dup MANE Select	NP_003352.2:n.866-49_866-45dup
NR_165456.1:n.1091-49_1091-45dup