Canonical Allele Identifier: CA1985425

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1025007
• ClinVar RCV Id: RCV001325263
• dbSNP Id: rs780929362
• ExAC: 2:179396887 ATTC / A
• gnomAD v2: 2-179396887-ATTC-A
• gnomAD v4: 2-178532160-ATTC-A
• MyVariant Identifiers: chr2:g.179396888_179396890del (hg19) ; chr2:g.178532161_178532163del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532164_178532166del , CM000664.2:g.178532164_178532166del	GRCh38
NC_000002.11:g.179396891_179396893del , CM000664.1:g.179396891_179396893del	GRCh37
NC_000002.10:g.179105137_179105139del	NCBI36
NG_011618.3:g.303640_303642del , LRG_391:g.303640_303642del
NG_051363.1:g.14338_14340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96748_96750del (TTN)	ENSP00000343764.6:p.Glu32250del
ENST00000342175.11:c.77833_77835del (TTN)	ENSP00000340554.6:p.Glu25945del
ENST00000359218.10:c.77632_77634del (TTN)	ENSP00000352154.5:p.Glu25878del
ENST00000342175.10:c.77833_77835del (TTN)	ENSP00000340554.6:p.Glu25945del
ENST00000342992.10:c.96748_96750del (TTN)	ENSP00000343764.6:p.Glu32250del
ENST00000359218.9:c.77632_77634del (TTN)	ENSP00000352154.5:p.Glu25878del
ENST00000460472.6:c.77257_77259del (TTN)	ENSP00000434586.1:p.Glu25753del
ENST00000589042.5:c.104452_104454del (TTN) MANE Select	ENSP00000467141.1:p.Glu34818del
ENST00000591111.5:c.99529_99531del (TTN)	ENSP00000465570.1:p.Glu33177del
ENST00000615779.4:c.99529_99531del (TTN)	ENSP00000483597.1:p.Glu33177del
NM_001256850.1:c.99529_99531del (TTN)	NP_001243779.1:p.Glu33177del
NM_001267550.2:c.104452_104454del (TTN) MANE Select	NP_001254479.2:p.Glu34818del
NM_003319.4:c.77257_77259del (TTN)	NP_003310.4:p.Glu25753del
NM_133378.4:c.96748_96750del (TTN)	NP_596869.4:p.Glu32250del
NM_133432.3:c.77632_77634del (TTN)	NP_597676.3:p.Glu25878del
NM_133437.4:c.77833_77835del (TTN)	NP_597681.4:p.Glu25945del
NR_038271.1:n.446+8528_446+8530del (TTN-AS1)
NR_038272.1:n.220-3568_220-3566del (TTN-AS1)
XM_011511729.1:c.103549_103551del (TTN)	XP_011510031.1:p.Glu34517del
XM_011511730.1:c.77443_77445del (TTN)	XP_011510032.1:p.Glu25815del
XM_011511731.1:c.77302_77304del (TTN)	XP_011510033.1:p.Glu25768del
XM_017004819.1:c.103345_103347del (TTN)	XP_016860308.1:p.Glu34449del
XM_017004820.1:c.98743_98745del (TTN)	XP_016860309.1:p.Glu32915del
XM_017004821.1:c.98740_98742del (TTN)	XP_016860310.1:p.Glu32914del
XM_017004822.1:c.95782_95784del (TTN)	XP_016860311.1:p.Glu31928del
XM_017004823.1:c.77398_77400del (TTN)	XP_016860312.1:p.Glu25800del
XM_024453094.1:c.98893_98895del (TTN)	XP_024308862.1:p.Glu32965del
XM_024453095.1:c.98890_98892del (TTN)	XP_024308863.1:p.Glu32964del
XM_024453096.1:c.98323_98325del (TTN)	XP_024308864.1:p.Glu32775del
XM_024453097.1:c.95665_95667del (TTN)	XP_024308865.1:p.Glu31889del
XM_024453098.1:c.95584_95586del (TTN)	XP_024308866.1:p.Glu31862del
XM_024453099.1:c.77347_77349del (TTN)	XP_024308867.1:p.Glu25783del
XM_024453100.1:c.67201_67203del (TTN)	XP_024308868.1:p.Glu22401del