Canonical Allele Identifier: CA2662125411

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178540028_178540029del , CM000664.2:g.178540028_178540029del GRCh38
NC_000002.11:g.179404755_179404756del , CM000664.1:g.179404755_179404756del GRCh37
NC_000002.10:g.179113001_179113002del NCBI36
NG_011618.3:g.295775_295776del , LRG_391:g.295775_295776del
NG_051363.1:g.22202_22203del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.90394+40_90394+41del (TTN) ENSP00000343764.6:n.90394+40_90394+41del
ENST00000342175.11:c.71479+40_71479+41del (TTN) ENSP00000340554.6:n.71479+40_71479+41del
ENST00000359218.10:c.71278+40_71278+41del (TTN) ENSP00000352154.5:n.71278+40_71278+41del
ENST00000342175.10:c.71479+40_71479+41del (TTN) ENSP00000340554.6:n.71479+40_71479+41del
ENST00000342992.10:c.90394+40_90394+41del (TTN) ENSP00000343764.6:n.90394+40_90394+41del
ENST00000359218.9:c.71278+40_71278+41del (TTN) ENSP00000352154.5:n.71278+40_71278+41del
ENST00000460472.6:c.70903+40_70903+41del (TTN) ENSP00000434586.1:n.70903+40_70903+41del
ENST00000589042.5:c.98098+40_98098+41del (TTN) MANE Select ENSP00000467141.1:n.98098+40_98098+41del
ENST00000591111.5:c.93175+40_93175+41del (TTN) ENSP00000465570.1:n.93175+40_93175+41del
ENST00000615779.4:c.93175+40_93175+41del (TTN) ENSP00000483597.1:n.93175+40_93175+41del
NM_001256850.1:c.93175+40_93175+41del (TTN) NP_001243779.1:n.93175+40_93175+41del
NM_001267550.2:c.98098+40_98098+41del (TTN) MANE Select NP_001254479.2:n.98098+40_98098+41del
NM_003319.4:c.70903+40_70903+41del (TTN) NP_003310.4:n.70903+40_70903+41del
NM_133378.4:c.90394+40_90394+41del (TTN) NP_596869.4:n.90394+40_90394+41del
NM_133432.3:c.71278+40_71278+41del (TTN) NP_597676.3:n.71278+40_71278+41del
NM_133437.4:c.71479+40_71479+41del (TTN) NP_597681.4:n.71479+40_71479+41del
NR_038271.1:n.446+16392_446+16393del (TTN-AS1)
NR_038272.1:n.1841-79_1841-78del (TTN-AS1)
XM_011511729.1:c.97195+40_97195+41del (TTN) XP_011510031.1:n.97195+40_97195+41del
XM_011511730.1:c.71089+40_71089+41del (TTN) XP_011510032.1:n.71089+40_71089+41del
XM_011511731.1:c.70948+40_70948+41del (TTN) XP_011510033.1:n.70948+40_70948+41del
XM_017004819.1:c.96991+40_96991+41del (TTN) XP_016860308.1:n.96991+40_96991+41del
XM_017004820.1:c.92389+40_92389+41del (TTN) XP_016860309.1:n.92389+40_92389+41del
XM_017004821.1:c.92386+40_92386+41del (TTN) XP_016860310.1:n.92386+40_92386+41del
XM_017004822.1:c.89428+40_89428+41del (TTN) XP_016860311.1:n.89428+40_89428+41del
XM_017004823.1:c.71044+40_71044+41del (TTN) XP_016860312.1:n.71044+40_71044+41del
XM_024453094.1:c.92539+40_92539+41del (TTN) XP_024308862.1:n.92539+40_92539+41del
XM_024453095.1:c.92536+40_92536+41del (TTN) XP_024308863.1:n.92536+40_92536+41del
XM_024453096.1:c.91969+40_91969+41del (TTN) XP_024308864.1:n.91969+40_91969+41del
XM_024453097.1:c.89311+40_89311+41del (TTN) XP_024308865.1:n.89311+40_89311+41del
XM_024453098.1:c.89230+40_89230+41del (TTN) XP_024308866.1:n.89230+40_89230+41del
XM_024453099.1:c.70993+40_70993+41del (TTN) XP_024308867.1:n.70993+40_70993+41del
XM_024453100.1:c.60847+40_60847+41del (TTN) XP_024308868.1:n.60847+40_60847+41del