Canonical Allele Identifier: CA2573134089

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1574597
• ClinVar RCV Id: RCV002073660
• dbSNP Id: rs2154145943
• gnomAD v4: 2-178546518-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546519del , CM000664.2:g.178546519del	GRCh38
NC_000002.11:g.179411246del , CM000664.1:g.179411246del	GRCh37
NC_000002.10:g.179119492del	NCBI36
NG_011618.3:g.289284del , LRG_391:g.289284del
NG_051363.1:g.28693del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87125-17del (TTN)	ENSP00000343764.6:n.87125-17del
ENST00000342175.11:c.68210-17del (TTN)	ENSP00000340554.6:n.68210-17del
ENST00000359218.10:c.68009-17del (TTN)	ENSP00000352154.5:n.68009-17del
ENST00000342175.10:c.68210-17del (TTN)	ENSP00000340554.6:n.68210-17del
ENST00000342992.10:c.87125-17del (TTN)	ENSP00000343764.6:n.87125-17del
ENST00000359218.9:c.68009-17del (TTN)	ENSP00000352154.5:n.68009-17del
ENST00000460472.6:c.67634-17del (TTN)	ENSP00000434586.1:n.67634-17del
ENST00000589042.5:c.94829-17del (TTN) MANE Select	ENSP00000467141.1:n.94829-17del
ENST00000591111.5:c.89906-17del (TTN)	ENSP00000465570.1:n.89906-17del
ENST00000615779.4:c.89906-17del (TTN)	ENSP00000483597.1:n.89906-17del
NM_001256850.1:c.89906-17del (TTN)	NP_001243779.1:n.89906-17del
NM_001267550.2:c.94829-17del (TTN) MANE Select	NP_001254479.2:n.94829-17del
NM_003319.4:c.67634-17del (TTN)	NP_003310.4:n.67634-17del
NM_133378.4:c.87125-17del (TTN)	NP_596869.4:n.87125-17del
NM_133432.3:c.68009-17del (TTN)	NP_597676.3:n.68009-17del
NM_133437.4:c.68210-17del (TTN)	NP_597681.4:n.68210-17del
NR_038271.1:n.446+22883del (TTN-AS1)
NR_038272.1:n.2043+4158del (TTN-AS1)
XM_011511729.1:c.93926-17del (TTN)	XP_011510031.1:n.93926-17del
XM_011511730.1:c.67820-17del (TTN)	XP_011510032.1:n.67820-17del
XM_011511731.1:c.67679-17del (TTN)	XP_011510033.1:n.67679-17del
XM_017004819.1:c.93722-17del (TTN)	XP_016860308.1:n.93722-17del
XM_017004820.1:c.89120-17del (TTN)	XP_016860309.1:n.89120-17del
XM_017004821.1:c.89117-17del (TTN)	XP_016860310.1:n.89117-17del
XM_017004822.1:c.86159-17del (TTN)	XP_016860311.1:n.86159-17del
XM_017004823.1:c.67775-17del (TTN)	XP_016860312.1:n.67775-17del
XM_024453094.1:c.89270-17del (TTN)	XP_024308862.1:n.89270-17del
XM_024453095.1:c.89267-17del (TTN)	XP_024308863.1:n.89267-17del
XM_024453096.1:c.88700-17del (TTN)	XP_024308864.1:n.88700-17del
XM_024453097.1:c.86042-17del (TTN)	XP_024308865.1:n.86042-17del
XM_024453098.1:c.85961-17del (TTN)	XP_024308866.1:n.85961-17del
XM_024453099.1:c.67724-17del (TTN)	XP_024308867.1:n.67724-17del
XM_024453100.1:c.57578-17del (TTN)	XP_024308868.1:n.57578-17del