Linked Data
ClinVar Variation Id:
155848
ClinVar RCV Id:
RCV000143971
dbSNP Id:
rs587782986
gnomAD v2:
2-179445127-ATTTG-A
gnomAD v4:
2-178580400-ATTTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178580403_178580406del , CM000664.2:g.178580403_178580406del | GRCh38 |
| NC_000002.11:g.179445130_179445133del , CM000664.1:g.179445130_179445133del | GRCh37 |
| NC_000002.10:g.179153376_179153379del | NCBI36 |
| NG_011618.3:g.255399_255402del , LRG_391:g.255399_255402del | |
| NG_051363.1:g.62577_62580del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.59271_59274del (TTN) | ENSP00000343764.6:p.Lys19758MetfsTer8 | |
| ENST00000342175.11:c.40356_40359del (TTN) | ENSP00000340554.6:p.Lys13453MetfsTer8 | |
| ENST00000359218.10:c.40155_40158del (TTN) | ENSP00000352154.5:p.Lys13386MetfsTer8 | |
| ENST00000342175.10:c.40356_40359del (TTN) | ENSP00000340554.6:p.Lys13453MetfsTer8 | |
| ENST00000342992.10:c.59271_59274del (TTN) | ENSP00000343764.6:p.Lys19758MetfsTer8 | |
| ENST00000359218.9:c.40155_40158del (TTN) | ENSP00000352154.5:p.Lys13386MetfsTer8 | |
| ENST00000460472.6:c.39780_39783del (TTN) | ENSP00000434586.1:p.Lys13261MetfsTer8 | |
| ENST00000589042.5:c.66975_66978del (TTN) MANE Select | ENSP00000467141.1:p.Lys22326MetfsTer8 | |
| ENST00000591111.5:c.62052_62055del (TTN) | ENSP00000465570.1:p.Lys20685MetfsTer8 | |
| ENST00000615779.4:c.62052_62055del (TTN) | ENSP00000483597.1:p.Lys20685MetfsTer8 | |
| NM_001256850.1:c.62052_62055del (TTN) | NP_001243779.1:p.Lys20685MetfsTer8 | |
| NM_001267550.2:c.66975_66978del (TTN) MANE Select | NP_001254479.2:p.Lys22326MetfsTer8 | |
| NM_003319.4:c.39780_39783del (TTN) | NP_003310.4:p.Lys13261MetfsTer8 | |
| NM_133378.4:c.59271_59274del (TTN) | NP_596869.4:p.Lys19758MetfsTer8 | |
| NM_133432.3:c.40155_40158del (TTN) | NP_597676.3:p.Lys13386MetfsTer8 | |
| NM_133437.4:c.40356_40359del (TTN) | NP_597681.4:p.Lys13453MetfsTer8 | |
| NR_038271.1:n.596+8954_596+8957del (TTN-AS1) | ||
| NR_038272.1:n.2044-2169_2044-2166del (TTN-AS1) | ||
| XM_011511729.1:c.66072_66075del (TTN) | XP_011510031.1:p.Lys22025MetfsTer8 | |
| XM_011511730.1:c.39966_39969del (TTN) | XP_011510032.1:p.Lys13323MetfsTer8 | |
| XM_011511731.1:c.39825_39828del (TTN) | XP_011510033.1:p.Lys13276MetfsTer8 | |
| XM_017004819.1:c.65868_65871del (TTN) | XP_016860308.1:p.Lys21957MetfsTer8 | |
| XM_017004820.1:c.61266_61269del (TTN) | XP_016860309.1:p.Lys20423MetfsTer8 | |
| XM_017004821.1:c.61263_61266del (TTN) | XP_016860310.1:p.Lys20422MetfsTer8 | |
| XM_017004822.1:c.58305_58308del (TTN) | XP_016860311.1:p.Lys19436MetfsTer8 | |
| XM_017004823.1:c.39921_39924del (TTN) | XP_016860312.1:p.Lys13308MetfsTer8 | |
| XM_024453094.1:c.61416_61419del (TTN) | XP_024308862.1:p.Lys20473MetfsTer8 | |
| XM_024453095.1:c.61413_61416del (TTN) | XP_024308863.1:p.Lys20472MetfsTer8 | |
| XM_024453096.1:c.60846_60849del (TTN) | XP_024308864.1:p.Lys20283MetfsTer8 | |
| XM_024453097.1:c.58188_58191del (TTN) | XP_024308865.1:p.Lys19397MetfsTer8 | |
| XM_024453098.1:c.58107_58110del (TTN) | XP_024308866.1:p.Lys19370MetfsTer8 | |
| XM_024453099.1:c.39870_39873del (TTN) | XP_024308867.1:p.Lys13291MetfsTer8 | |
| XM_024453100.1:c.29724_29727del (TTN) | XP_024308868.1:p.Lys9909MetfsTer8 |