Canonical Allele Identifier: CA2580614422

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2506085
• ClinVar RCV Id: RCV003236316 ; RCV003779858

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537235del , CM000664.2:g.178537235del	GRCh38
NC_000002.11:g.179401962del , CM000664.1:g.179401962del	GRCh37
NC_000002.10:g.179110208del	NCBI36
NG_011618.3:g.298568del , LRG_391:g.298568del
NG_051363.1:g.19409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.92170del (TTN)	ENSP00000343764.6:p.Asp30724ThrfsTer8
ENST00000342175.11:c.73255del (TTN)	ENSP00000340554.6:p.Asp24419ThrfsTer8
ENST00000359218.10:c.73054del (TTN)	ENSP00000352154.5:p.Asp24352ThrfsTer8
ENST00000342175.10:c.73255del (TTN)	ENSP00000340554.6:p.Asp24419ThrfsTer8
ENST00000342992.10:c.92170del (TTN)	ENSP00000343764.6:p.Asp30724ThrfsTer8
ENST00000359218.9:c.73054del (TTN)	ENSP00000352154.5:p.Asp24352ThrfsTer8
ENST00000460472.6:c.72679del (TTN)	ENSP00000434586.1:p.Asp24227ThrfsTer8
ENST00000589042.5:c.99874del (TTN) MANE Select	ENSP00000467141.1:p.Asp33292ThrfsTer8
ENST00000591111.5:c.94951del (TTN)	ENSP00000465570.1:p.Asp31651ThrfsTer8
ENST00000615779.4:c.94951del (TTN)	ENSP00000483597.1:p.Asp31651ThrfsTer8
NM_001256850.1:c.94951del (TTN)	NP_001243779.1:p.Asp31651ThrfsTer8
NM_001267550.2:c.99874del (TTN) MANE Select	NP_001254479.2:p.Asp33292ThrfsTer8
NM_003319.4:c.72679del (TTN)	NP_003310.4:p.Asp24227ThrfsTer8
NM_133378.4:c.92170del (TTN)	NP_596869.4:p.Asp30724ThrfsTer8
NM_133432.3:c.73054del (TTN)	NP_597676.3:p.Asp24352ThrfsTer8
NM_133437.4:c.73255del (TTN)	NP_597681.4:p.Asp24419ThrfsTer8
NR_038271.1:n.446+13599del (TTN-AS1)
NR_038272.1:n.317-126del (TTN-AS1)
XM_011511729.1:c.98971del (TTN)	XP_011510031.1:p.Asp32991ThrfsTer8
XM_011511730.1:c.72865del (TTN)	XP_011510032.1:p.Asp24289ThrfsTer8
XM_011511731.1:c.72724del (TTN)	XP_011510033.1:p.Asp24242ThrfsTer8
XM_017004819.1:c.98767del (TTN)	XP_016860308.1:p.Asp32923ThrfsTer8
XM_017004820.1:c.94165del (TTN)	XP_016860309.1:p.Asp31389ThrfsTer8
XM_017004821.1:c.94162del (TTN)	XP_016860310.1:p.Asp31388ThrfsTer8
XM_017004822.1:c.91204del (TTN)	XP_016860311.1:p.Asp30402ThrfsTer8
XM_017004823.1:c.72820del (TTN)	XP_016860312.1:p.Asp24274ThrfsTer8
XM_024453094.1:c.94315del (TTN)	XP_024308862.1:p.Asp31439ThrfsTer8
XM_024453095.1:c.94312del (TTN)	XP_024308863.1:p.Asp31438ThrfsTer8
XM_024453096.1:c.93745del (TTN)	XP_024308864.1:p.Asp31249ThrfsTer8
XM_024453097.1:c.91087del (TTN)	XP_024308865.1:p.Asp30363ThrfsTer8
XM_024453098.1:c.91006del (TTN)	XP_024308866.1:p.Asp30336ThrfsTer8
XM_024453099.1:c.72769del (TTN)	XP_024308867.1:p.Asp24257ThrfsTer8
XM_024453100.1:c.62623del (TTN)	XP_024308868.1:p.Asp20875ThrfsTer8