Canonical Allele Identifier: CA658796071

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614550_178614553del , CM000664.2:g.178614550_178614553del GRCh38
NC_000002.11:g.179479277_179479280del , CM000664.1:g.179479277_179479280del GRCh37
NC_000002.10:g.179187522_179187525del NCBI36
NG_011618.3:g.221252_221255del , LRG_391:g.221252_221255del
NG_051363.1:g.96724_96727del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41259_41262del (TTN) ENSP00000343764.6:p.Ser13753ArgfsTer13
ENST00000342175.11:c.22344_22347del (TTN) ENSP00000340554.6:p.Ser7448ArgfsTer13
ENST00000359218.10:c.22143_22146del (TTN) ENSP00000352154.5:p.Ser7381ArgfsTer13
ENST00000342175.10:c.22344_22347del (TTN) ENSP00000340554.6:p.Ser7448ArgfsTer13
ENST00000342992.10:c.41259_41262del (TTN) ENSP00000343764.6:p.Ser13753ArgfsTer13
ENST00000359218.9:c.22143_22146del (TTN) ENSP00000352154.5:p.Ser7381ArgfsTer13
ENST00000460472.6:c.21768_21771del (TTN) ENSP00000434586.1:p.Ser7256ArgfsTer13
ENST00000589042.5:c.48963_48966del (TTN) MANE Select ENSP00000467141.1:p.Ser16321ArgfsTer13
ENST00000591111.5:c.44040_44043del (TTN) ENSP00000465570.1:p.Ser14680ArgfsTer13
ENST00000615779.4:c.44040_44043del (TTN) ENSP00000483597.1:p.Ser14680ArgfsTer13
NM_001256850.1:c.44040_44043del (TTN) NP_001243779.1:p.Ser14680ArgfsTer13
NM_001267550.2:c.48963_48966del (TTN) MANE Select NP_001254479.2:p.Ser16321ArgfsTer13
NM_003319.4:c.21768_21771del (TTN) NP_003310.4:p.Ser7256ArgfsTer13
NM_133378.4:c.41259_41262del (TTN) NP_596869.4:p.Ser13753ArgfsTer13
NM_133432.3:c.22143_22146del (TTN) NP_597676.3:p.Ser7381ArgfsTer13
NM_133437.4:c.22344_22347del (TTN) NP_597681.4:p.Ser7448ArgfsTer13
NR_038271.1:n.1298_1301del (TTN-AS1)
XM_011511729.1:c.48060_48063del (TTN) XP_011510031.1:p.Ser16020ArgfsTer13
XM_011511730.1:c.21954_21957del (TTN) XP_011510032.1:p.Ser7318ArgfsTer13
XM_011511731.1:c.21813_21816del (TTN) XP_011510033.1:p.Ser7271ArgfsTer13
XM_017004819.1:c.47856_47859del (TTN) XP_016860308.1:p.Ser15952ArgfsTer13
XM_017004820.1:c.43254_43257del (TTN) XP_016860309.1:p.Ser14418ArgfsTer13
XM_017004821.1:c.43251_43254del (TTN) XP_016860310.1:p.Ser14417ArgfsTer13
XM_017004822.1:c.40293_40296del (TTN) XP_016860311.1:p.Ser13431ArgfsTer13
XM_017004823.1:c.21909_21912del (TTN) XP_016860312.1:p.Ser7303ArgfsTer13
XM_024453094.1:c.43404_43407del (TTN) XP_024308862.1:p.Ser14468ArgfsTer13
XM_024453095.1:c.43401_43404del (TTN) XP_024308863.1:p.Ser14467ArgfsTer13
XM_024453096.1:c.42834_42837del (TTN) XP_024308864.1:p.Ser14278ArgfsTer13
XM_024453097.1:c.40176_40179del (TTN) XP_024308865.1:p.Ser13392ArgfsTer13
XM_024453098.1:c.40095_40098del (TTN) XP_024308866.1:p.Ser13365ArgfsTer13
XM_024453099.1:c.21858_21861del (TTN) XP_024308867.1:p.Ser7286ArgfsTer13
XM_024453100.1:c.11712_11715del (TTN) XP_024308868.1:p.Ser3904ArgfsTer13