Canonical Allele Identifier: CA882260726
Community Standard Title: NM_001042545.2(LTBP4):c.1360del (p.Arg454GlyfsTer?)
Gene: LTBP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40608537del , CM000681.2:g.40608537del GRCh38
NC_000019.9:g.41114443del , CM000681.1:g.41114443del GRCh37
NC_000019.8:g.45806283del NCBI36
NG_021201.1:g.20372del

Transcript Alleles

HGVS Amino-acid Change
NM_001042545.2:c.1360del MANE Select NP_001036010.1:p.Arg454GlyfsTer?
ENST00000396819.8:c.1360del MANE Select ENSP00000380031.5:p.Arg454GlyfsTer?
NM_001042544.1:c.1561del NP_001036009.1:p.Arg521GlyfsTer?
NM_001042545.1:c.1360del NP_001036010.1:p.Arg454GlyfsTer?
NM_003573.2:c.1450del NP_003564.2:p.Arg484GlyfsTer?
ENST00000204005.13:c.1450del ENSP00000204005.10:p.Arg484GlyfsTer?
ENST00000308370.11:c.1561del ENSP00000311905.8:p.Arg521GlyfsTer?
ENST00000396819.7:c.1360del ENSP00000380031.4:p.Arg454GlyfsTer?
ENST00000595529.1:n.430del
ENST00000598717.5:n.429-2837del
XM_011527376.1:c.1675del XP_011525678.1:p.Arg559GlyfsTer?
XM_011527376.2:c.1675del XP_011525678.1:p.Arg559GlyfsTer?
XM_011527377.1:c.1594del XP_011525679.1:p.Arg532GlyfsTer?
XM_011527377.2:c.1594del XP_011525679.1:p.Arg532GlyfsTer?
XM_011527378.1:c.1594del XP_011525680.1:p.Arg532GlyfsTer?
XM_011527378.2:c.1594del XP_011525680.1:p.Arg532GlyfsTer?
XM_011527379.1:c.1474del XP_011525681.1:p.Arg492GlyfsTer?
XM_011527380.1:c.1594del XP_011525682.1:p.Arg532GlyfsTer?
XM_011527380.2:c.1594del XP_011525682.1:p.Arg532GlyfsTer?
XM_011527381.1:c.1594del XP_011525683.1:p.Arg532GlyfsTer?
XM_011527381.2:c.1594del XP_011525683.1:p.Arg532GlyfsTer?
XM_011527382.1:c.1594del XP_011525684.1:p.Arg532GlyfsTer?
XM_011527382.2:c.1594del XP_011525684.1:p.Arg532GlyfsTer?
XM_011527383.1:c.1594del XP_011525685.1:p.Arg532GlyfsTer?
XM_011527383.2:c.1594del XP_011525685.1:p.Arg532GlyfsTer?
XM_011527384.1:c.1594del XP_011525686.1:p.Arg532GlyfsTer?
XM_011527384.2:c.1594del XP_011525686.1:p.Arg532GlyfsTer?
XM_011527385.1:c.1594del XP_011525687.1:p.Arg532GlyfsTer?
XM_011527385.2:c.1594del XP_011525687.1:p.Arg532GlyfsTer?
XM_011527386.1:c.1594del XP_011525688.1:p.Arg532GlyfsTer?
XM_011527386.2:c.1594del XP_011525688.1:p.Arg532GlyfsTer?
XM_011527387.1:c.952del XP_011525689.1:p.Arg318GlyfsTer?
XM_017027352.1:c.1594del XP_016882841.1:p.Arg532GlyfsTer?
XM_017027353.1:c.1594del XP_016882842.1:p.Arg532GlyfsTer?
XM_017027354.1:c.1594del XP_016882843.1:p.Arg532GlyfsTer?