Canonical Allele Identifier: CA1310550921

Linked Data

dbSNP Id: rs2057684203

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618130_178618132del , CM000664.2:g.178618130_178618132del GRCh38
NC_000002.11:g.179482857_179482859del , CM000664.1:g.179482857_179482859del GRCh37
NC_000002.10:g.179191102_179191104del NCBI36
NG_011618.3:g.217676_217678del , LRG_391:g.217676_217678del
NG_051363.1:g.100304_100306del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39566-46_39566-44del (TTN) ENSP00000343764.6:n.39566-46_39566-44del
ENST00000342175.11:c.20651-46_20651-44del (TTN) ENSP00000340554.6:n.20651-46_20651-44del
ENST00000359218.10:c.20450-46_20450-44del (TTN) ENSP00000352154.5:n.20450-46_20450-44del
ENST00000342175.10:c.20651-46_20651-44del (TTN) ENSP00000340554.6:n.20651-46_20651-44del
ENST00000342992.10:c.39566-46_39566-44del (TTN) ENSP00000343764.6:n.39566-46_39566-44del
ENST00000359218.9:c.20450-46_20450-44del (TTN) ENSP00000352154.5:n.20450-46_20450-44del
ENST00000460472.6:c.20075-46_20075-44del (TTN) ENSP00000434586.1:n.20075-46_20075-44del
ENST00000589042.5:c.47270-46_47270-44del (TTN) MANE Select ENSP00000467141.1:n.47270-46_47270-44del
ENST00000591111.5:c.42347-46_42347-44del (TTN) ENSP00000465570.1:n.42347-46_42347-44del
ENST00000615779.4:c.42347-46_42347-44del (TTN) ENSP00000483597.1:n.42347-46_42347-44del
NM_001256850.1:c.42347-46_42347-44del (TTN) NP_001243779.1:n.42347-46_42347-44del
NM_001267550.2:c.47270-46_47270-44del (TTN) MANE Select NP_001254479.2:n.47270-46_47270-44del
NM_003319.4:c.20075-46_20075-44del (TTN) NP_003310.4:n.20075-46_20075-44del
NM_133378.4:c.39566-46_39566-44del (TTN) NP_596869.4:n.39566-46_39566-44del
NM_133432.3:c.20450-46_20450-44del (TTN) NP_597676.3:n.20450-46_20450-44del
NM_133437.4:c.20651-46_20651-44del (TTN) NP_597681.4:n.20651-46_20651-44del
NR_038271.1:n.1605-1623_1605-1621del (TTN-AS1)
XM_011511729.1:c.46367-46_46367-44del (TTN) XP_011510031.1:n.46367-46_46367-44del
XM_011511730.1:c.20261-46_20261-44del (TTN) XP_011510032.1:n.20261-46_20261-44del
XM_011511731.1:c.20120-46_20120-44del (TTN) XP_011510033.1:n.20120-46_20120-44del
XM_017004819.1:c.46163-46_46163-44del (TTN) XP_016860308.1:n.46163-46_46163-44del
XM_017004820.1:c.41561-46_41561-44del (TTN) XP_016860309.1:n.41561-46_41561-44del
XM_017004821.1:c.41558-46_41558-44del (TTN) XP_016860310.1:n.41558-46_41558-44del
XM_017004822.1:c.38600-46_38600-44del (TTN) XP_016860311.1:n.38600-46_38600-44del
XM_017004823.1:c.20216-46_20216-44del (TTN) XP_016860312.1:n.20216-46_20216-44del
XM_024453094.1:c.41711-46_41711-44del (TTN) XP_024308862.1:n.41711-46_41711-44del
XM_024453095.1:c.41708-46_41708-44del (TTN) XP_024308863.1:n.41708-46_41708-44del
XM_024453096.1:c.41141-46_41141-44del (TTN) XP_024308864.1:n.41141-46_41141-44del
XM_024453097.1:c.38483-46_38483-44del (TTN) XP_024308865.1:n.38483-46_38483-44del
XM_024453098.1:c.38402-46_38402-44del (TTN) XP_024308866.1:n.38402-46_38402-44del
XM_024453099.1:c.20165-46_20165-44del (TTN) XP_024308867.1:n.20165-46_20165-44del
XM_024453100.1:c.10019-46_10019-44del (TTN) XP_024308868.1:n.10019-46_10019-44del