Canonical Allele Identifier: CA645515407

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5676124 ; COSM5676125 ; COSM5676126 ; COSM5676127

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536071_178536075del , CM000664.2:g.178536071_178536075del	GRCh38
NC_000002.11:g.179400798_179400802del , CM000664.1:g.179400798_179400802del	GRCh37
NC_000002.10:g.179109044_179109048del	NCBI36
NG_011618.3:g.299728_299732del , LRG_391:g.299728_299732del
NG_051363.1:g.18245_18249del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92968_92972del (TTN)	ENSP00000343764.6:p.Ala30990CysfsTer4
ENST00000342175.11:c.74053_74057del (TTN)	ENSP00000340554.6:p.Ala24685CysfsTer4
ENST00000359218.10:c.73852_73856del (TTN)	ENSP00000352154.5:p.Ala24618CysfsTer4
ENST00000342175.10:c.74053_74057del (TTN)	ENSP00000340554.6:p.Ala24685CysfsTer4
ENST00000342992.10:c.92968_92972del (TTN)	ENSP00000343764.6:p.Ala30990CysfsTer4
ENST00000359218.9:c.73852_73856del (TTN)	ENSP00000352154.5:p.Ala24618CysfsTer4
ENST00000460472.6:c.73477_73481del (TTN)	ENSP00000434586.1:p.Ala24493CysfsTer4
ENST00000589042.5:c.100672_100676del (TTN) MANE Select	ENSP00000467141.1:p.Ala33558CysfsTer4
ENST00000591111.5:c.95749_95753del (TTN)	ENSP00000465570.1:p.Ala31917CysfsTer4
ENST00000615779.4:c.95749_95753del (TTN)	ENSP00000483597.1:p.Ala31917CysfsTer4
NM_001256850.1:c.95749_95753del (TTN)	NP_001243779.1:p.Ala31917CysfsTer4
NM_001267550.2:c.100672_100676del (TTN) MANE Select	NP_001254479.2:p.Ala33558CysfsTer4
NM_003319.4:c.73477_73481del (TTN)	NP_003310.4:p.Ala24493CysfsTer4
NM_133378.4:c.92968_92972del (TTN)	NP_596869.4:p.Ala30990CysfsTer4
NM_133432.3:c.73852_73856del (TTN)	NP_597676.3:p.Ala24618CysfsTer4
NM_133437.4:c.74053_74057del (TTN)	NP_597681.4:p.Ala24685CysfsTer4
NR_038271.1:n.446+12435_446+12439del (TTN-AS1)
NR_038272.1:n.316+243_316+247del (TTN-AS1)
XM_011511729.1:c.99769_99773del (TTN)	XP_011510031.1:p.Ala33257CysfsTer4
XM_011511730.1:c.73663_73667del (TTN)	XP_011510032.1:p.Ala24555CysfsTer4
XM_011511731.1:c.73522_73526del (TTN)	XP_011510033.1:p.Ala24508CysfsTer4
XM_017004819.1:c.99565_99569del (TTN)	XP_016860308.1:p.Ala33189CysfsTer4
XM_017004820.1:c.94963_94967del (TTN)	XP_016860309.1:p.Ala31655CysfsTer4
XM_017004821.1:c.94960_94964del (TTN)	XP_016860310.1:p.Ala31654CysfsTer4
XM_017004822.1:c.92002_92006del (TTN)	XP_016860311.1:p.Ala30668CysfsTer4
XM_017004823.1:c.73618_73622del (TTN)	XP_016860312.1:p.Ala24540CysfsTer4
XM_024453094.1:c.95113_95117del (TTN)	XP_024308862.1:p.Ala31705CysfsTer4
XM_024453095.1:c.95110_95114del (TTN)	XP_024308863.1:p.Ala31704CysfsTer4
XM_024453096.1:c.94543_94547del (TTN)	XP_024308864.1:p.Ala31515CysfsTer4
XM_024453097.1:c.91885_91889del (TTN)	XP_024308865.1:p.Ala30629CysfsTer4
XM_024453098.1:c.91804_91808del (TTN)	XP_024308866.1:p.Ala30602CysfsTer4
XM_024453099.1:c.73567_73571del (TTN)	XP_024308867.1:p.Ala24523CysfsTer4
XM_024453100.1:c.63421_63425del (TTN)	XP_024308868.1:p.Ala21141CysfsTer4