Canonical Allele Identifier: CA913189591

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 626393
• ClinVar RCV Id: RCV000768819 ; RCV001231179 ; RCV003884723 ; RCV004545799
• dbSNP Id: rs1558988204

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530600del , CM000664.2:g.178530600del	GRCh38
NC_000002.11:g.179395327del , CM000664.1:g.179395327del	GRCh37
NC_000002.10:g.179103573del	NCBI36
NG_011618.3:g.305203del , LRG_391:g.305203del
NG_051363.1:g.12774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98311del (TTN)	ENSP00000343764.6:p.Asp32771MetfsTer?
ENST00000342175.11:c.79396del (TTN)	ENSP00000340554.6:p.Asp26466MetfsTer?
ENST00000359218.10:c.79195del (TTN)	ENSP00000352154.5:p.Asp26399MetfsTer?
ENST00000342175.10:c.79396del (TTN)	ENSP00000340554.6:p.Asp26466MetfsTer?
ENST00000342992.10:c.98311del (TTN)	ENSP00000343764.6:p.Asp32771MetfsTer?
ENST00000359218.9:c.79195del (TTN)	ENSP00000352154.5:p.Asp26399MetfsTer?
ENST00000460472.6:c.78820del (TTN)	ENSP00000434586.1:p.Asp26274MetfsTer?
ENST00000589042.5:c.106015del (TTN) MANE Select	ENSP00000467141.1:p.Asp35339MetfsTer?
ENST00000591111.5:c.101092del (TTN)	ENSP00000465570.1:p.Asp33698MetfsTer?
ENST00000615779.4:c.101092del (TTN)	ENSP00000483597.1:p.Asp33698MetfsTer?
NM_001256850.1:c.101092del (TTN)	NP_001243779.1:p.Asp33698MetfsTer?
NM_001267550.2:c.106015del (TTN) MANE Select	NP_001254479.2:p.Asp35339MetfsTer?
NM_003319.4:c.78820del (TTN)	NP_003310.4:p.Asp26274MetfsTer?
NM_133378.4:c.98311del (TTN)	NP_596869.4:p.Asp32771MetfsTer?
NM_133432.3:c.79195del (TTN)	NP_597676.3:p.Asp26399MetfsTer?
NM_133437.4:c.79396del (TTN)	NP_597681.4:p.Asp26466MetfsTer?
NR_038271.1:n.446+6964del (TTN-AS1)
NR_038272.1:n.220-5132del (TTN-AS1)
XM_011511729.1:c.105112del (TTN)	XP_011510031.1:p.Asp35038MetfsTer?
XM_011511730.1:c.79006del (TTN)	XP_011510032.1:p.Asp26336MetfsTer?
XM_011511731.1:c.78865del (TTN)	XP_011510033.1:p.Asp26289MetfsTer?
XM_017004819.1:c.104908del (TTN)	XP_016860308.1:p.Asp34970MetfsTer?
XM_017004820.1:c.100306del (TTN)	XP_016860309.1:p.Asp33436MetfsTer?
XM_017004821.1:c.100303del (TTN)	XP_016860310.1:p.Asp33435MetfsTer?
XM_017004822.1:c.97345del (TTN)	XP_016860311.1:p.Asp32449MetfsTer?
XM_017004823.1:c.78961del (TTN)	XP_016860312.1:p.Asp26321MetfsTer?
XM_024453094.1:c.100456del (TTN)	XP_024308862.1:p.Asp33486MetfsTer?
XM_024453095.1:c.100453del (TTN)	XP_024308863.1:p.Asp33485MetfsTer?
XM_024453096.1:c.99886del (TTN)	XP_024308864.1:p.Asp33296MetfsTer?
XM_024453097.1:c.97228del (TTN)	XP_024308865.1:p.Asp32410MetfsTer?
XM_024453098.1:c.97147del (TTN)	XP_024308866.1:p.Asp32383MetfsTer?
XM_024453099.1:c.78910del (TTN)	XP_024308867.1:p.Asp26304MetfsTer?
XM_024453100.1:c.68764del (TTN)	XP_024308868.1:p.Asp22922MetfsTer?