Canonical Allele Identifier: CA16610307

Linked Data

ClinVar Variation Id: 405054
ClinVar RCV Id: RCV000476613
dbSNP Id: rs1060500544

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544459_178544460del , CM000664.2:g.178544459_178544460del GRCh38
NC_000002.11:g.179409186_179409187del , CM000664.1:g.179409186_179409187del GRCh37
NC_000002.10:g.179117432_179117433del NCBI36
NG_011618.3:g.291346_291347del , LRG_391:g.291346_291347del
NG_051363.1:g.26633_26634del

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.69153_69154del ENSP00000340554.6:p.His23051GlnfsTer3
ENST00000359218.10:n.68952_68953del ENSP00000352154.5:p.His22984GlnfsTer3
ENST00000342175.10:c.69153_69154del ENSP00000340554.6:p.His23051GlnfsTer3
ENST00000342992.10:c.88068_88069del ENSP00000343764.6:p.His29356GlnfsTer3
ENST00000359218.9:c.68952_68953del ENSP00000352154.5:p.His22984GlnfsTer3
ENST00000460472.6:c.68577_68578del ENSP00000434586.1:p.His22859GlnfsTer3
ENST00000589042.5:c.95772_95773del MANE Select ENSP00000467141.1:p.His31924GlnfsTer3
ENST00000591111.5:c.90849_90850del ENSP00000465570.1:p.His30283GlnfsTer3
ENST00000615779.4:c.90849_90850del ENSP00000483597.1:p.His30283GlnfsTer3
NM_001256850.1:c.90849_90850del (TTN) NP_001243779.1:p.His30283GlnfsTer3
NM_001267550.2:c.95772_95773del (TTN) MANE Select NP_001254479.2:p.His31924GlnfsTer3
NM_003319.4:c.68577_68578del (TTN) NP_003310.4:p.His22859GlnfsTer3
NM_133378.4:c.88068_88069del (TTN) NP_596869.4:p.His29356GlnfsTer3
NM_133432.3:c.68952_68953del (TTN) NP_597676.3:p.His22984GlnfsTer3
NM_133437.4:c.69153_69154del (TTN) NP_597681.4:p.His23051GlnfsTer3
NR_038271.1:n.446+20823_446+20824del (TTN-AS1)
NR_038272.1:n.2043+2098_2043+2099del (TTN-AS1)
XM_011511729.1:c.94869_94870del (TTN) XP_011510031.1:p.His31623GlnfsTer3
XM_011511730.1:c.68763_68764del (TTN) XP_011510032.1:p.His22921GlnfsTer3
XM_011511731.1:c.68622_68623del (TTN) XP_011510033.1:p.His22874GlnfsTer3
XM_017004819.1:c.94665_94666del (TTN) XP_016860308.1:p.His31555GlnfsTer3
XM_017004820.1:c.90063_90064del (TTN) XP_016860309.1:p.His30021GlnfsTer3
XM_017004821.1:c.90060_90061del (TTN) XP_016860310.1:p.His30020GlnfsTer3
XM_017004822.1:c.87102_87103del (TTN) XP_016860311.1:p.His29034GlnfsTer3
XM_017004823.1:c.68718_68719del (TTN) XP_016860312.1:p.His22906GlnfsTer3
XM_024453094.1:c.90213_90214del (TTN) XP_024308862.1:p.His30071GlnfsTer3
XM_024453095.1:c.90210_90211del (TTN) XP_024308863.1:p.His30070GlnfsTer3
XM_024453096.1:c.89643_89644del (TTN) XP_024308864.1:p.His29881GlnfsTer3
XM_024453097.1:c.86985_86986del (TTN) XP_024308865.1:p.His28995GlnfsTer3
XM_024453098.1:c.86904_86905del (TTN) XP_024308866.1:p.His28968GlnfsTer3
XM_024453099.1:c.68667_68668del (TTN) XP_024308867.1:p.His22889GlnfsTer3
XM_024453100.1:c.58521_58522del (TTN) XP_024308868.1:p.His19507GlnfsTer3