Canonical Allele Identifier: CA2502201646

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557804_178557805del , CM000664.2:g.178557804_178557805del GRCh38
NC_000002.11:g.179422531_179422532del , CM000664.1:g.179422531_179422532del GRCh37
NC_000002.10:g.179130777_179130778del NCBI36
NG_011618.3:g.277998_277999del , LRG_391:g.277998_277999del
NG_051363.1:g.39978_39979del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79845_79846del (TTN) ENSP00000343764.6:p.Trp26617AspfsTer2
ENST00000342175.11:c.60930_60931del (TTN) ENSP00000340554.6:p.Trp20312AspfsTer2
ENST00000359218.10:c.60729_60730del (TTN) ENSP00000352154.5:p.Trp20245AspfsTer2
ENST00000342175.10:c.60930_60931del (TTN) ENSP00000340554.6:p.Trp20312AspfsTer2
ENST00000342992.10:c.79845_79846del (TTN) ENSP00000343764.6:p.Trp26617AspfsTer2
ENST00000359218.9:c.60729_60730del (TTN) ENSP00000352154.5:p.Trp20245AspfsTer2
ENST00000460472.6:c.60354_60355del (TTN) ENSP00000434586.1:p.Trp20120AspfsTer2
ENST00000589042.5:c.87549_87550del (TTN) MANE Select ENSP00000467141.1:p.Trp29185AspfsTer2
ENST00000591111.5:c.82626_82627del (TTN) ENSP00000465570.1:p.Trp27544AspfsTer2
ENST00000615779.4:c.82626_82627del (TTN) ENSP00000483597.1:p.Trp27544AspfsTer2
NM_001256850.1:c.82626_82627del (TTN) NP_001243779.1:p.Trp27544AspfsTer2
NM_001267550.2:c.87549_87550del (TTN) MANE Select NP_001254479.2:p.Trp29185AspfsTer2
NM_003319.4:c.60354_60355del (TTN) NP_003310.4:p.Trp20120AspfsTer2
NM_133378.4:c.79845_79846del (TTN) NP_596869.4:p.Trp26617AspfsTer2
NM_133432.3:c.60729_60730del (TTN) NP_597676.3:p.Trp20245AspfsTer2
NM_133437.4:c.60930_60931del (TTN) NP_597681.4:p.Trp20312AspfsTer2
NR_038271.1:n.447-13496_447-13495del (TTN-AS1)
NR_038272.1:n.2043+15443_2043+15444del (TTN-AS1)
XM_011511729.1:c.86646_86647del (TTN) XP_011510031.1:p.Trp28884AspfsTer2
XM_011511730.1:c.60540_60541del (TTN) XP_011510032.1:p.Trp20182AspfsTer2
XM_011511731.1:c.60399_60400del (TTN) XP_011510033.1:p.Trp20135AspfsTer2
XM_017004819.1:c.86442_86443del (TTN) XP_016860308.1:p.Trp28816AspfsTer2
XM_017004820.1:c.81840_81841del (TTN) XP_016860309.1:p.Trp27282AspfsTer2
XM_017004821.1:c.81837_81838del (TTN) XP_016860310.1:p.Trp27281AspfsTer2
XM_017004822.1:c.78879_78880del (TTN) XP_016860311.1:p.Trp26295AspfsTer2
XM_017004823.1:c.60495_60496del (TTN) XP_016860312.1:p.Trp20167AspfsTer2
XM_024453094.1:c.81990_81991del (TTN) XP_024308862.1:p.Trp27332AspfsTer2
XM_024453095.1:c.81987_81988del (TTN) XP_024308863.1:p.Trp27331AspfsTer2
XM_024453096.1:c.81420_81421del (TTN) XP_024308864.1:p.Trp27142AspfsTer2
XM_024453097.1:c.78762_78763del (TTN) XP_024308865.1:p.Trp26256AspfsTer2
XM_024453098.1:c.78681_78682del (TTN) XP_024308866.1:p.Trp26229AspfsTer2
XM_024453099.1:c.60444_60445del (TTN) XP_024308867.1:p.Trp20150AspfsTer2
XM_024453100.1:c.50298_50299del (TTN) XP_024308868.1:p.Trp16768AspfsTer2