Canonical Allele Identifier: CA658796024

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535289
• ClinVar RCV Id: RCV000643183 ; RCV001592789 ; RCV003162902

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566270_178566271delinsAC , CM000664.2:g.178566270_178566271delinsAC	GRCh38
NC_000002.11:g.179430997_179430998delinsAC , CM000664.1:g.179430997_179430998delinsAC	GRCh37
NC_000002.10:g.179139243_179139244delinsAC	NCBI36
NG_011618.3:g.269532_269533delinsGT , LRG_391:g.269532_269533delinsGT
NG_051363.1:g.48444_48445delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.72157_72158delinsGT (TTN)	ENSP00000343764.6:p.Thr24053Val
ENST00000342175.11:c.53242_53243delinsGT (TTN)	ENSP00000340554.6:p.Thr17748Val
ENST00000359218.10:c.53041_53042delinsGT (TTN)	ENSP00000352154.5:p.Thr17681Val
ENST00000342175.10:c.53242_53243delinsGT (TTN)	ENSP00000340554.6:p.Thr17748Val
ENST00000342992.10:c.72157_72158delinsGT (TTN)	ENSP00000343764.6:p.Thr24053Val
ENST00000359218.9:c.53041_53042delinsGT (TTN)	ENSP00000352154.5:p.Thr17681Val
ENST00000460472.6:c.52666_52667delinsGT (TTN)	ENSP00000434586.1:p.Thr17556Val
ENST00000589042.5:c.79861_79862delinsGT (TTN) MANE Select	ENSP00000467141.1:p.Thr26621Val
ENST00000591111.5:c.74938_74939delinsGT (TTN)	ENSP00000465570.1:p.Thr24980Val
ENST00000615779.4:c.74938_74939delinsGT (TTN)	ENSP00000483597.1:p.Thr24980Val
NM_001256850.1:c.74938_74939delinsGT (TTN)	NP_001243779.1:p.Thr24980Val
NM_001267550.2:c.79861_79862delinsGT (TTN) MANE Select	NP_001254479.2:p.Thr26621Val
NM_003319.4:c.52666_52667delinsGT (TTN)	NP_003310.4:p.Thr17556Val
NM_133378.4:c.72157_72158delinsGT (TTN)	NP_596869.4:p.Thr24053Val
NM_133432.3:c.53041_53042delinsGT (TTN)	NP_597676.3:p.Thr17681Val
NM_133437.4:c.53242_53243delinsGT (TTN)	NP_597681.4:p.Thr17748Val
NR_038271.1:n.447-5030_447-5029delinsAC (TTN-AS1)
NR_038272.1:n.2044-16302_2044-16301delinsAC (TTN-AS1)
XM_011511729.1:c.78958_78959delinsGT (TTN)	XP_011510031.1:p.Thr26320Val
XM_011511730.1:c.52852_52853delinsGT (TTN)	XP_011510032.1:p.Thr17618Val
XM_011511731.1:c.52711_52712delinsGT (TTN)	XP_011510033.1:p.Thr17571Val
XM_017004819.1:c.78754_78755delinsGT (TTN)	XP_016860308.1:p.Thr26252Val
XM_017004820.1:c.74152_74153delinsGT (TTN)	XP_016860309.1:p.Thr24718Val
XM_017004821.1:c.74149_74150delinsGT (TTN)	XP_016860310.1:p.Thr24717Val
XM_017004822.1:c.71191_71192delinsGT (TTN)	XP_016860311.1:p.Thr23731Val
XM_017004823.1:c.52807_52808delinsGT (TTN)	XP_016860312.1:p.Thr17603Val
XM_024453094.1:c.74302_74303delinsGT (TTN)	XP_024308862.1:p.Thr24768Val
XM_024453095.1:c.74299_74300delinsGT (TTN)	XP_024308863.1:p.Thr24767Val
XM_024453096.1:c.73732_73733delinsGT (TTN)	XP_024308864.1:p.Thr24578Val
XM_024453097.1:c.71074_71075delinsGT (TTN)	XP_024308865.1:p.Thr23692Val
XM_024453098.1:c.70993_70994delinsGT (TTN)	XP_024308866.1:p.Thr23665Val
XM_024453099.1:c.52756_52757delinsGT (TTN)	XP_024308867.1:p.Thr17586Val
XM_024453100.1:c.42610_42611delinsGT (TTN)	XP_024308868.1:p.Thr14204Val