Canonical Allele Identifier: CA10606880

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 290698
• ClinVar RCV Id: RCV000462155 ; RCV000520427
• dbSNP Id: rs886044536
• gnomAD v4: 2-178548225-CAAGCT-C
• MyVariant Identifiers: chr2:g.179412953_179412957del (hg19) ; chr2:g.178548226_178548230del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178548229_178548233del , CM000664.2:g.178548229_178548233del	GRCh38
NC_000002.11:g.179412956_179412960del , CM000664.1:g.179412956_179412960del	GRCh37
NC_000002.10:g.179121202_179121206del	NCBI36
NG_011618.3:g.287573_287577del , LRG_391:g.287573_287577del
NG_051363.1:g.30403_30407del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.85692_85696del (TTN)	ENSP00000343764.6:p.Trp28566Ter
ENST00000342175.11:c.66777_66781del (TTN)	ENSP00000340554.6:p.Trp22261Ter
ENST00000359218.10:c.66576_66580del (TTN)	ENSP00000352154.5:p.Trp22194Ter
ENST00000342175.10:c.66777_66781del (TTN)	ENSP00000340554.6:p.Trp22261Ter
ENST00000342992.10:c.85692_85696del (TTN)	ENSP00000343764.6:p.Trp28566Ter
ENST00000359218.9:c.66576_66580del (TTN)	ENSP00000352154.5:p.Trp22194Ter
ENST00000460472.6:c.66201_66205del (TTN)	ENSP00000434586.1:p.Trp22069Ter
ENST00000589042.5:c.93396_93400del (TTN) MANE Select	ENSP00000467141.1:p.Trp31134Ter
ENST00000591111.5:c.88473_88477del (TTN)	ENSP00000465570.1:p.Trp29493Ter
ENST00000615779.4:c.88473_88477del (TTN)	ENSP00000483597.1:p.Trp29493Ter
NM_001256850.1:c.88473_88477del (TTN)	NP_001243779.1:p.Trp29493Ter
NM_001267550.2:c.93396_93400del (TTN) MANE Select	NP_001254479.2:p.Trp31134Ter
NM_003319.4:c.66201_66205del (TTN)	NP_003310.4:p.Trp22069Ter
NM_133378.4:c.85692_85696del (TTN)	NP_596869.4:p.Trp28566Ter
NM_133432.3:c.66576_66580del (TTN)	NP_597676.3:p.Trp22194Ter
NM_133437.4:c.66777_66781del (TTN)	NP_597681.4:p.Trp22261Ter
NR_038271.1:n.447-23071_447-23067del (TTN-AS1)
NR_038272.1:n.2043+5868_2043+5872del (TTN-AS1)
XM_011511729.1:c.92493_92497del (TTN)	XP_011510031.1:p.Trp30833Ter
XM_011511730.1:c.66387_66391del (TTN)	XP_011510032.1:p.Trp22131Ter
XM_011511731.1:c.66246_66250del (TTN)	XP_011510033.1:p.Trp22084Ter
XM_017004819.1:c.92289_92293del (TTN)	XP_016860308.1:p.Trp30765Ter
XM_017004820.1:c.87687_87691del (TTN)	XP_016860309.1:p.Trp29231Ter
XM_017004821.1:c.87684_87688del (TTN)	XP_016860310.1:p.Trp29230Ter
XM_017004822.1:c.84726_84730del (TTN)	XP_016860311.1:p.Trp28244Ter
XM_017004823.1:c.66342_66346del (TTN)	XP_016860312.1:p.Trp22116Ter
XM_024453094.1:c.87837_87841del (TTN)	XP_024308862.1:p.Trp29281Ter
XM_024453095.1:c.87834_87838del (TTN)	XP_024308863.1:p.Trp29280Ter
XM_024453096.1:c.87267_87271del (TTN)	XP_024308864.1:p.Trp29091Ter
XM_024453097.1:c.84609_84613del (TTN)	XP_024308865.1:p.Trp28205Ter
XM_024453098.1:c.84528_84532del (TTN)	XP_024308866.1:p.Trp28178Ter
XM_024453099.1:c.66291_66295del (TTN)	XP_024308867.1:p.Trp22099Ter
XM_024453100.1:c.56145_56149del (TTN)	XP_024308868.1:p.Trp18717Ter