Canonical Allele Identifier: CA2662132184

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614555_178614558dup , CM000664.2:g.178614555_178614558dup GRCh38
NC_000002.11:g.179479282_179479285dup , CM000664.1:g.179479282_179479285dup GRCh37
NC_000002.10:g.179187527_179187530dup NCBI36
NG_011618.3:g.221246_221249dup , LRG_391:g.221246_221249dup
NG_051363.1:g.96729_96732dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41253_41256dup (TTN) ENSP00000343764.6:p.Ser13753Ter
ENST00000342175.11:c.22338_22341dup (TTN) ENSP00000340554.6:p.Ser7448Ter
ENST00000359218.10:c.22137_22140dup (TTN) ENSP00000352154.5:p.Ser7381Ter
ENST00000342175.10:c.22338_22341dup (TTN) ENSP00000340554.6:p.Ser7448Ter
ENST00000342992.10:c.41253_41256dup (TTN) ENSP00000343764.6:p.Ser13753Ter
ENST00000359218.9:c.22137_22140dup (TTN) ENSP00000352154.5:p.Ser7381Ter
ENST00000460472.6:c.21762_21765dup (TTN) ENSP00000434586.1:p.Ser7256Ter
ENST00000589042.5:c.48957_48960dup (TTN) MANE Select ENSP00000467141.1:p.Ser16321Ter
ENST00000591111.5:c.44034_44037dup (TTN) ENSP00000465570.1:p.Ser14680Ter
ENST00000615779.4:c.44034_44037dup (TTN) ENSP00000483597.1:p.Ser14680Ter
NM_001256850.1:c.44034_44037dup (TTN) NP_001243779.1:p.Ser14680Ter
NM_001267550.2:c.48957_48960dup (TTN) MANE Select NP_001254479.2:p.Ser16321Ter
NM_003319.4:c.21762_21765dup (TTN) NP_003310.4:p.Ser7256Ter
NM_133378.4:c.41253_41256dup (TTN) NP_596869.4:p.Ser13753Ter
NM_133432.3:c.22137_22140dup (TTN) NP_597676.3:p.Ser7381Ter
NM_133437.4:c.22338_22341dup (TTN) NP_597681.4:p.Ser7448Ter
NR_038271.1:n.1303_1306dup (TTN-AS1)
XM_011511729.1:c.48054_48057dup (TTN) XP_011510031.1:p.Ser16020Ter
XM_011511730.1:c.21948_21951dup (TTN) XP_011510032.1:p.Ser7318Ter
XM_011511731.1:c.21807_21810dup (TTN) XP_011510033.1:p.Ser7271Ter
XM_017004819.1:c.47850_47853dup (TTN) XP_016860308.1:p.Ser15952Ter
XM_017004820.1:c.43248_43251dup (TTN) XP_016860309.1:p.Ser14418Ter
XM_017004821.1:c.43245_43248dup (TTN) XP_016860310.1:p.Ser14417Ter
XM_017004822.1:c.40287_40290dup (TTN) XP_016860311.1:p.Ser13431Ter
XM_017004823.1:c.21903_21906dup (TTN) XP_016860312.1:p.Ser7303Ter
XM_024453094.1:c.43398_43401dup (TTN) XP_024308862.1:p.Ser14468Ter
XM_024453095.1:c.43395_43398dup (TTN) XP_024308863.1:p.Ser14467Ter
XM_024453096.1:c.42828_42831dup (TTN) XP_024308864.1:p.Ser14278Ter
XM_024453097.1:c.40170_40173dup (TTN) XP_024308865.1:p.Ser13392Ter
XM_024453098.1:c.40089_40092dup (TTN) XP_024308866.1:p.Ser13365Ter
XM_024453099.1:c.21852_21855dup (TTN) XP_024308867.1:p.Ser7286Ter
XM_024453100.1:c.11706_11709dup (TTN) XP_024308868.1:p.Ser3904Ter