Canonical Allele Identifier: CA2740095947

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178528306_178528309del , CM000664.2:g.178528306_178528309del	GRCh38
NC_000002.11:g.179393033_179393036del , CM000664.1:g.179393033_179393036del	GRCh37
NC_000002.10:g.179101279_179101282del	NCBI36
NG_011618.3:g.307495_307498del , LRG_391:g.307495_307498del
NG_051363.1:g.10480_10483del

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.107343_107346del (TTN) MANE Select	NP_001254479.2:p.Gln35782ValfsTer7
ENST00000589042.5:c.107343_107346del (TTN) MANE Select	ENSP00000467141.1:p.Gln35782ValfsTer7
NM_001256850.1:c.102420_102423del (TTN)	NP_001243779.1:p.Gln34141ValfsTer7
NM_003319.4:c.80148_80151del (TTN)	NP_003310.4:p.Gln26717ValfsTer7
NM_133378.4:c.99639_99642del (TTN)	NP_596869.4:p.Gln33214ValfsTer7
NM_133432.3:c.80523_80526del (TTN)	NP_597676.3:p.Gln26842ValfsTer7
NM_133437.4:c.80724_80727del (TTN)	NP_597681.4:p.Gln26909ValfsTer7
NR_038271.1:n.446+4670_446+4673del (TTN-AS1)
NR_038272.1:n.219+4670_219+4673del (TTN-AS1)
ENST00000342175.10:c.80724_80727del (TTN)	ENSP00000340554.6:p.Gln26909ValfsTer7
ENST00000342175.11:c.80724_80727del (TTN)	ENSP00000340554.6:p.Gln26909ValfsTer7
ENST00000342992.10:c.99639_99642del (TTN)	ENSP00000343764.6:p.Gln33214ValfsTer7
ENST00000342992.11:c.99639_99642del (TTN)	ENSP00000343764.6:p.Gln33214ValfsTer7
ENST00000359218.10:c.80523_80526del (TTN)	ENSP00000352154.5:p.Gln26842ValfsTer7
ENST00000359218.9:c.80523_80526del (TTN)	ENSP00000352154.5:p.Gln26842ValfsTer7
ENST00000460472.6:c.80148_80151del (TTN)	ENSP00000434586.1:p.Gln26717ValfsTer7
ENST00000591111.5:c.102420_102423del (TTN)	ENSP00000465570.1:p.Gln34141ValfsTer7
ENST00000615779.4:c.102420_102423del (TTN)	ENSP00000483597.1:p.Gln34141ValfsTer7
XM_011511729.1:c.106440_106443del (TTN)	XP_011510031.1:p.Gln35481ValfsTer7
XM_011511730.1:c.80334_80337del (TTN)	XP_011510032.1:p.Gln26779ValfsTer7
XM_011511731.1:c.80193_80196del (TTN)	XP_011510033.1:p.Gln26732ValfsTer7
XM_017004819.1:c.106236_106239del (TTN)	XP_016860308.1:p.Gln35413ValfsTer7
XM_017004820.1:c.101634_101637del (TTN)	XP_016860309.1:p.Gln33879ValfsTer7
XM_017004821.1:c.101631_101634del (TTN)	XP_016860310.1:p.Gln33878ValfsTer7
XM_017004822.1:c.98673_98676del (TTN)	XP_016860311.1:p.Gln32892ValfsTer7
XM_017004823.1:c.80289_80292del (TTN)	XP_016860312.1:p.Gln26764ValfsTer7
XM_024453094.1:c.101784_101787del (TTN)	XP_024308862.1:p.Gln33929ValfsTer7
XM_024453095.1:c.101781_101784del (TTN)	XP_024308863.1:p.Gln33928ValfsTer7
XM_024453096.1:c.101214_101217del (TTN)	XP_024308864.1:p.Gln33739ValfsTer7
XM_024453097.1:c.98556_98559del (TTN)	XP_024308865.1:p.Gln32853ValfsTer7
XM_024453098.1:c.98475_98478del (TTN)	XP_024308866.1:p.Gln32826ValfsTer7
XM_024453099.1:c.80238_80241del (TTN)	XP_024308867.1:p.Gln26747ValfsTer7
XM_024453100.1:c.70092_70095del (TTN)	XP_024308868.1:p.Gln23365ValfsTer7