Canonical Allele Identifier: CA1986864

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 263626
• ClinVar RCV Id: RCV000254409 ; RCV003137859
• dbSNP Id: rs752016475
• ExAC: 2:179409102 CCTT / C
• gnomAD v2: 2-179409102-CCTT-C
• gnomAD v4: 2-178544375-CCTT-C
• MyVariant Identifiers: chr2:g.179409103_179409105del (hg19) ; chr2:g.178544376_178544378del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544378_178544380del , CM000664.2:g.178544378_178544380del	GRCh38
NC_000002.11:g.179409105_179409107del , CM000664.1:g.179409105_179409107del	GRCh37
NC_000002.10:g.179117351_179117353del	NCBI36
NG_011618.3:g.291425_291427del , LRG_391:g.291425_291427del
NG_051363.1:g.26552_26554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88147_88149del (TTN)	ENSP00000343764.6:p.Lys29383del
ENST00000342175.11:c.69232_69234del (TTN)	ENSP00000340554.6:p.Lys23078del
ENST00000359218.10:c.69031_69033del (TTN)	ENSP00000352154.5:p.Lys23011del
ENST00000342175.10:c.69232_69234del (TTN)	ENSP00000340554.6:p.Lys23078del
ENST00000342992.10:c.88147_88149del (TTN)	ENSP00000343764.6:p.Lys29383del
ENST00000359218.9:c.69031_69033del (TTN)	ENSP00000352154.5:p.Lys23011del
ENST00000460472.6:c.68656_68658del (TTN)	ENSP00000434586.1:p.Lys22886del
ENST00000589042.5:c.95851_95853del (TTN) MANE Select	ENSP00000467141.1:p.Lys31951del
ENST00000591111.5:c.90928_90930del (TTN)	ENSP00000465570.1:p.Lys30310del
ENST00000615779.4:c.90928_90930del (TTN)	ENSP00000483597.1:p.Lys30310del
NM_001256850.1:c.90928_90930del (TTN)	NP_001243779.1:p.Lys30310del
NM_001267550.2:c.95851_95853del (TTN) MANE Select	NP_001254479.2:p.Lys31951del
NM_003319.4:c.68656_68658del (TTN)	NP_003310.4:p.Lys22886del
NM_133378.4:c.88147_88149del (TTN)	NP_596869.4:p.Lys29383del
NM_133432.3:c.69031_69033del (TTN)	NP_597676.3:p.Lys23011del
NM_133437.4:c.69232_69234del (TTN)	NP_597681.4:p.Lys23078del
NR_038271.1:n.446+20742_446+20744del (TTN-AS1)
NR_038272.1:n.2043+2017_2043+2019del (TTN-AS1)
XM_011511729.1:c.94948_94950del (TTN)	XP_011510031.1:p.Lys31650del
XM_011511730.1:c.68842_68844del (TTN)	XP_011510032.1:p.Lys22948del
XM_011511731.1:c.68701_68703del (TTN)	XP_011510033.1:p.Lys22901del
XM_017004819.1:c.94744_94746del (TTN)	XP_016860308.1:p.Lys31582del
XM_017004820.1:c.90142_90144del (TTN)	XP_016860309.1:p.Lys30048del
XM_017004821.1:c.90139_90141del (TTN)	XP_016860310.1:p.Lys30047del
XM_017004822.1:c.87181_87183del (TTN)	XP_016860311.1:p.Lys29061del
XM_017004823.1:c.68797_68799del (TTN)	XP_016860312.1:p.Lys22933del
XM_024453094.1:c.90292_90294del (TTN)	XP_024308862.1:p.Lys30098del
XM_024453095.1:c.90289_90291del (TTN)	XP_024308863.1:p.Lys30097del
XM_024453096.1:c.89722_89724del (TTN)	XP_024308864.1:p.Lys29908del
XM_024453097.1:c.87064_87066del (TTN)	XP_024308865.1:p.Lys29022del
XM_024453098.1:c.86983_86985del (TTN)	XP_024308866.1:p.Lys28995del
XM_024453099.1:c.68746_68748del (TTN)	XP_024308867.1:p.Lys22916del
XM_024453100.1:c.58600_58602del (TTN)	XP_024308868.1:p.Lys19534del