Canonical Allele Identifier: CA2580064928

Linked Data

ClinVar Variation Id: 1760755
ClinVar RCV Id: RCV002409974

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531231_178531232delinsCA , CM000664.2:g.178531231_178531232delinsCA GRCh38
NC_000002.11:g.179395958_179395959delinsCA , CM000664.1:g.179395958_179395959delinsCA GRCh37
NC_000002.10:g.179104204_179104205delinsCA NCBI36
NG_011618.3:g.304571_304572delinsTG , LRG_391:g.304571_304572delinsTG
NG_051363.1:g.13405_13406delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.97679_97680delinsTG (TTN) ENSP00000343764.6:p.Ala32560Val
ENST00000342175.11:c.78764_78765delinsTG (TTN) ENSP00000340554.6:p.Ala26255Val
ENST00000359218.10:c.78563_78564delinsTG (TTN) ENSP00000352154.5:p.Ala26188Val
ENST00000342175.10:c.78764_78765delinsTG (TTN) ENSP00000340554.6:p.Ala26255Val
ENST00000342992.10:c.97679_97680delinsTG (TTN) ENSP00000343764.6:p.Ala32560Val
ENST00000359218.9:c.78563_78564delinsTG (TTN) ENSP00000352154.5:p.Ala26188Val
ENST00000460472.6:c.78188_78189delinsTG (TTN) ENSP00000434586.1:p.Ala26063Val
ENST00000589042.5:c.105383_105384delinsTG (TTN) MANE Select ENSP00000467141.1:p.Ala35128Val
ENST00000591111.5:c.100460_100461delinsTG (TTN) ENSP00000465570.1:p.Ala33487Val
ENST00000615779.4:c.100460_100461delinsTG (TTN) ENSP00000483597.1:p.Ala33487Val
NM_001256850.1:c.100460_100461delinsTG (TTN) NP_001243779.1:p.Ala33487Val
NM_001267550.2:c.105383_105384delinsTG (TTN) MANE Select NP_001254479.2:p.Ala35128Val
NM_003319.4:c.78188_78189delinsTG (TTN) NP_003310.4:p.Ala26063Val
NM_133378.4:c.97679_97680delinsTG (TTN) NP_596869.4:p.Ala32560Val
NM_133432.3:c.78563_78564delinsTG (TTN) NP_597676.3:p.Ala26188Val
NM_133437.4:c.78764_78765delinsTG (TTN) NP_597681.4:p.Ala26255Val
NR_038271.1:n.446+7595_446+7596delinsCA (TTN-AS1)
NR_038272.1:n.220-4501_220-4500delinsCA (TTN-AS1)
XM_011511729.1:c.104480_104481delinsTG (TTN) XP_011510031.1:p.Ala34827Val
XM_011511730.1:c.78374_78375delinsTG (TTN) XP_011510032.1:p.Ala26125Val
XM_011511731.1:c.78233_78234delinsTG (TTN) XP_011510033.1:p.Ala26078Val
XM_017004819.1:c.104276_104277delinsTG (TTN) XP_016860308.1:p.Ala34759Val
XM_017004820.1:c.99674_99675delinsTG (TTN) XP_016860309.1:p.Ala33225Val
XM_017004821.1:c.99671_99672delinsTG (TTN) XP_016860310.1:p.Ala33224Val
XM_017004822.1:c.96713_96714delinsTG (TTN) XP_016860311.1:p.Ala32238Val
XM_017004823.1:c.78329_78330delinsTG (TTN) XP_016860312.1:p.Ala26110Val
XM_024453094.1:c.99824_99825delinsTG (TTN) XP_024308862.1:p.Ala33275Val
XM_024453095.1:c.99821_99822delinsTG (TTN) XP_024308863.1:p.Ala33274Val
XM_024453096.1:c.99254_99255delinsTG (TTN) XP_024308864.1:p.Ala33085Val
XM_024453097.1:c.96596_96597delinsTG (TTN) XP_024308865.1:p.Ala32199Val
XM_024453098.1:c.96515_96516delinsTG (TTN) XP_024308866.1:p.Ala32172Val
XM_024453099.1:c.78278_78279delinsTG (TTN) XP_024308867.1:p.Ala26093Val
XM_024453100.1:c.68132_68133delinsTG (TTN) XP_024308868.1:p.Ala22711Val