Canonical Allele Identifier: CA2806163729

Gene: UMOD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20348509_20348513del , CM000678.2:g.20348509_20348513del	GRCh38
NC_000016.9:g.20359831_20359835del , CM000678.1:g.20359831_20359835del	GRCh37
NC_000016.8:g.20267332_20267336del	NCBI36
NG_008151.1:g.9204_9208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396138.9:c.789_793del MANE Select	ENSP00000379442.5:p.Val264GlyfsTer?
ENST00000302509.8:c.789_793del	ENSP00000306279.4:p.Val264GlyfsTer?
ENST00000396134.6:c.888_892del	ENSP00000379438.2:p.Val297GlyfsTer?
ENST00000396138.8:c.936_940del	ENSP00000379442.4:p.Val313GlyfsTer?
ENST00000570689.5:c.789_793del	ENSP00000460548.1:p.Val264GlyfsTer?
NM_001008389.2:c.789_793del	NP_001008390.1:p.Val264GlyfsTer?
NM_001278614.1:c.888_892del	NP_001265543.1:p.Val297GlyfsTer?
NM_003361.3:c.789_793del	NP_003352.2:p.Val264GlyfsTer?
XM_011545934.1:c.873_877del	XP_011544236.1:p.Val292GlyfsTer?
XM_011545935.1:c.789_793del	XP_011544237.1:p.Val264GlyfsTer?
XM_011545936.1:c.789_793del	XP_011544238.1:p.Val264GlyfsTer?
XM_011545937.1:c.789_793del	XP_011544239.1:p.Val264GlyfsTer?
XM_011545938.1:c.789_793del	XP_011544240.1:p.Val264GlyfsTer?
XM_011545939.1:c.873_877del	XP_011544241.1:p.Val292GlyfsTer?
XM_011545940.1:c.936_940del	XP_011544242.1:p.Val313GlyfsTer?
XM_011545934.2:c.789_793del	XP_011544236.2:p.Val264GlyfsTer?
XM_011545940.2:c.789_793del	XP_011544242.2:p.Val264GlyfsTer?
XM_024450433.1:c.789_793del	XP_024306201.1:p.Val264GlyfsTer?
NM_001008389.3:c.789_793del	NP_001008390.1:p.Val264GlyfsTer?
NM_001278614.2:c.888_892del	NP_001265543.1:p.Val297GlyfsTer?
NM_001378232.1:c.789_793del	NP_001365161.1:p.Val264GlyfsTer?
NM_001378233.1:c.789_793del	NP_001365162.1:p.Val264GlyfsTer?
NM_001378234.1:c.789_793del	NP_001365163.1:p.Val264GlyfsTer?
NM_001378235.1:c.789_793del	NP_001365164.1:p.Val264GlyfsTer?
NM_001378237.1:c.789_793del	NP_001365166.1:p.Val264GlyfsTer?
NM_003361.4:c.789_793del MANE Select	NP_003352.2:p.Val264GlyfsTer?
NR_165456.1:n.1014_1018del