Canonical Allele Identifier: CA1310518153

Linked Data

dbSNP Id: rs1689462021

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532268_178532269insGGAGG , CM000664.2:g.178532268_178532269insGGAGG GRCh38
NC_000002.11:g.179396995_179396996insGGAGG , CM000664.1:g.179396995_179396996insGGAGG GRCh37
NC_000002.10:g.179105241_179105242insGGAGG NCBI36
NG_011618.3:g.303535_303536insCTCCC , LRG_391:g.303535_303536insCTCCC
NG_051363.1:g.14442_14443insGGAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96643_96644insCTCCC (TTN) ENSP00000343764.6:p.Leu32215ProfsTer29
ENST00000342175.11:c.77728_77729insCTCCC (TTN) ENSP00000340554.6:p.Leu25910ProfsTer29
ENST00000359218.10:c.77527_77528insCTCCC (TTN) ENSP00000352154.5:p.Leu25843ProfsTer29
ENST00000342175.10:c.77728_77729insCTCCC (TTN) ENSP00000340554.6:p.Leu25910ProfsTer29
ENST00000342992.10:c.96643_96644insCTCCC (TTN) ENSP00000343764.6:p.Leu32215ProfsTer29
ENST00000359218.9:c.77527_77528insCTCCC (TTN) ENSP00000352154.5:p.Leu25843ProfsTer29
ENST00000460472.6:c.77152_77153insCTCCC (TTN) ENSP00000434586.1:p.Leu25718ProfsTer29
ENST00000589042.5:c.104347_104348insCTCCC (TTN) MANE Select ENSP00000467141.1:p.Leu34783ProfsTer29
ENST00000591111.5:c.99424_99425insCTCCC (TTN) ENSP00000465570.1:p.Leu33142ProfsTer29
ENST00000615779.4:c.99424_99425insCTCCC (TTN) ENSP00000483597.1:p.Leu33142ProfsTer29
NM_001256850.1:c.99424_99425insCTCCC (TTN) NP_001243779.1:p.Leu33142ProfsTer29
NM_001267550.2:c.104347_104348insCTCCC (TTN) MANE Select NP_001254479.2:p.Leu34783ProfsTer29
NM_003319.4:c.77152_77153insCTCCC (TTN) NP_003310.4:p.Leu25718ProfsTer29
NM_133378.4:c.96643_96644insCTCCC (TTN) NP_596869.4:p.Leu32215ProfsTer29
NM_133432.3:c.77527_77528insCTCCC (TTN) NP_597676.3:p.Leu25843ProfsTer29
NM_133437.4:c.77728_77729insCTCCC (TTN) NP_597681.4:p.Leu25910ProfsTer29
NR_038271.1:n.446+8632_446+8633insGGAGG (TTN-AS1)
NR_038272.1:n.220-3464_220-3463insGGAGG (TTN-AS1)
XM_011511729.1:c.103444_103445insCTCCC (TTN) XP_011510031.1:p.Leu34482ProfsTer29
XM_011511730.1:c.77338_77339insCTCCC (TTN) XP_011510032.1:p.Leu25780ProfsTer29
XM_011511731.1:c.77197_77198insCTCCC (TTN) XP_011510033.1:p.Leu25733ProfsTer29
XM_017004819.1:c.103240_103241insCTCCC (TTN) XP_016860308.1:p.Leu34414ProfsTer29
XM_017004820.1:c.98638_98639insCTCCC (TTN) XP_016860309.1:p.Leu32880ProfsTer29
XM_017004821.1:c.98635_98636insCTCCC (TTN) XP_016860310.1:p.Leu32879ProfsTer29
XM_017004822.1:c.95677_95678insCTCCC (TTN) XP_016860311.1:p.Leu31893ProfsTer29
XM_017004823.1:c.77293_77294insCTCCC (TTN) XP_016860312.1:p.Leu25765ProfsTer29
XM_024453094.1:c.98788_98789insCTCCC (TTN) XP_024308862.1:p.Leu32930ProfsTer29
XM_024453095.1:c.98785_98786insCTCCC (TTN) XP_024308863.1:p.Leu32929ProfsTer29
XM_024453096.1:c.98218_98219insCTCCC (TTN) XP_024308864.1:p.Leu32740ProfsTer29
XM_024453097.1:c.95560_95561insCTCCC (TTN) XP_024308865.1:p.Leu31854ProfsTer29
XM_024453098.1:c.95479_95480insCTCCC (TTN) XP_024308866.1:p.Leu31827ProfsTer29
XM_024453099.1:c.77242_77243insCTCCC (TTN) XP_024308867.1:p.Leu25748ProfsTer29
XM_024453100.1:c.67096_67097insCTCCC (TTN) XP_024308868.1:p.Leu22366ProfsTer29