Linked Data
dbSNP Id:
rs747077637
ExAC:
2:179442632 CAT / C
gnomAD v2:
2-179442632-CAT-C
gnomAD v4:
2-178577905-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178577907_178577908del , CM000664.2:g.178577907_178577908del | GRCh38 |
| NC_000002.11:g.179442634_179442635del , CM000664.1:g.179442634_179442635del | GRCh37 |
| NC_000002.10:g.179150880_179150881del | NCBI36 |
| NG_011618.3:g.257896_257897del , LRG_391:g.257896_257897del | |
| NG_051363.1:g.60081_60082del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60824-9_60824-8del (TTN) | ENSP00000343764.6:n.60824-9_60824-8del | |
| ENST00000342175.11:c.41909-9_41909-8del (TTN) | ENSP00000340554.6:n.41909-9_41909-8del | |
| ENST00000359218.10:c.41708-9_41708-8del (TTN) | ENSP00000352154.5:n.41708-9_41708-8del | |
| ENST00000342175.10:c.41909-9_41909-8del (TTN) | ENSP00000340554.6:n.41909-9_41909-8del | |
| ENST00000342992.10:c.60824-9_60824-8del (TTN) | ENSP00000343764.6:n.60824-9_60824-8del | |
| ENST00000359218.9:c.41708-9_41708-8del (TTN) | ENSP00000352154.5:n.41708-9_41708-8del | |
| ENST00000460472.6:c.41333-9_41333-8del (TTN) | ENSP00000434586.1:n.41333-9_41333-8del | |
| ENST00000589042.5:c.68528-9_68528-8del (TTN) MANE Select | ENSP00000467141.1:n.68528-9_68528-8del | |
| ENST00000591111.5:c.63605-9_63605-8del (TTN) | ENSP00000465570.1:n.63605-9_63605-8del | |
| ENST00000615779.4:c.63605-9_63605-8del (TTN) | ENSP00000483597.1:n.63605-9_63605-8del | |
| NM_001256850.1:c.63605-9_63605-8del (TTN) | NP_001243779.1:n.63605-9_63605-8del | |
| NM_001267550.2:c.68528-9_68528-8del (TTN) MANE Select | NP_001254479.2:n.68528-9_68528-8del | |
| NM_003319.4:c.41333-9_41333-8del (TTN) | NP_003310.4:n.41333-9_41333-8del | |
| NM_133378.4:c.60824-9_60824-8del (TTN) | NP_596869.4:n.60824-9_60824-8del | |
| NM_133432.3:c.41708-9_41708-8del (TTN) | NP_597676.3:n.41708-9_41708-8del | |
| NM_133437.4:c.41909-9_41909-8del (TTN) | NP_597681.4:n.41909-9_41909-8del | |
| NR_038271.1:n.596+6458_596+6459del (TTN-AS1) | ||
| NR_038272.1:n.2044-4665_2044-4664del (TTN-AS1) | ||
| XM_011511729.1:c.67625-9_67625-8del (TTN) | XP_011510031.1:n.67625-9_67625-8del | |
| XM_011511730.1:c.41519-9_41519-8del (TTN) | XP_011510032.1:n.41519-9_41519-8del | |
| XM_011511731.1:c.41378-9_41378-8del (TTN) | XP_011510033.1:n.41378-9_41378-8del | |
| XM_017004819.1:c.67421-9_67421-8del (TTN) | XP_016860308.1:n.67421-9_67421-8del | |
| XM_017004820.1:c.62819-9_62819-8del (TTN) | XP_016860309.1:n.62819-9_62819-8del | |
| XM_017004821.1:c.62816-9_62816-8del (TTN) | XP_016860310.1:n.62816-9_62816-8del | |
| XM_017004822.1:c.59858-9_59858-8del (TTN) | XP_016860311.1:n.59858-9_59858-8del | |
| XM_017004823.1:c.41474-9_41474-8del (TTN) | XP_016860312.1:n.41474-9_41474-8del | |
| XM_024453094.1:c.62969-9_62969-8del (TTN) | XP_024308862.1:n.62969-9_62969-8del | |
| XM_024453095.1:c.62966-9_62966-8del (TTN) | XP_024308863.1:n.62966-9_62966-8del | |
| XM_024453096.1:c.62399-9_62399-8del (TTN) | XP_024308864.1:n.62399-9_62399-8del | |
| XM_024453097.1:c.59741-9_59741-8del (TTN) | XP_024308865.1:n.59741-9_59741-8del | |
| XM_024453098.1:c.59660-9_59660-8del (TTN) | XP_024308866.1:n.59660-9_59660-8del | |
| XM_024453099.1:c.41423-9_41423-8del (TTN) | XP_024308867.1:n.41423-9_41423-8del | |
| XM_024453100.1:c.31277-9_31277-8del (TTN) | XP_024308868.1:n.31277-9_31277-8del |