Canonical Allele Identifier: CA60954084

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 504393
• ClinVar RCV Id: RCV000598788 ; RCV002413688 ; RCV002491230 ; RCV003767420 ; RCV004017691
• dbSNP Id: rs770878165
• gnomAD v4: 2-178531423-AAC-A
• MyVariant Identifiers: chr2:g.179396151_179396152del (hg19) ; chr2:g.178531424_178531425del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178531425_178531426del , CM000664.2:g.178531425_178531426del	GRCh38
NC_000002.11:g.179396152_179396153del , CM000664.1:g.179396152_179396153del	GRCh37
NC_000002.10:g.179104398_179104399del	NCBI36
NG_011618.3:g.304378_304379del , LRG_391:g.304378_304379del
NG_051363.1:g.13599_13600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.97486_97487del (TTN)	ENSP00000343764.6:p.Val32496PhefsTer4
ENST00000342175.11:c.78571_78572del (TTN)	ENSP00000340554.6:p.Val26191PhefsTer4
ENST00000359218.10:c.78370_78371del (TTN)	ENSP00000352154.5:p.Val26124PhefsTer4
ENST00000342175.10:c.78571_78572del (TTN)	ENSP00000340554.6:p.Val26191PhefsTer4
ENST00000342992.10:c.97486_97487del (TTN)	ENSP00000343764.6:p.Val32496PhefsTer4
ENST00000359218.9:c.78370_78371del (TTN)	ENSP00000352154.5:p.Val26124PhefsTer4
ENST00000460472.6:c.77995_77996del (TTN)	ENSP00000434586.1:p.Val25999PhefsTer4
ENST00000589042.5:c.105190_105191del (TTN) MANE Select	ENSP00000467141.1:p.Val35064PhefsTer4
ENST00000591111.5:c.100267_100268del (TTN)	ENSP00000465570.1:p.Val33423PhefsTer4
ENST00000615779.4:c.100267_100268del (TTN)	ENSP00000483597.1:p.Val33423PhefsTer4
NM_001256850.1:c.100267_100268del (TTN)	NP_001243779.1:p.Val33423PhefsTer4
NM_001267550.2:c.105190_105191del (TTN) MANE Select	NP_001254479.2:p.Val35064PhefsTer4
NM_003319.4:c.77995_77996del (TTN)	NP_003310.4:p.Val25999PhefsTer4
NM_133378.4:c.97486_97487del (TTN)	NP_596869.4:p.Val32496PhefsTer4
NM_133432.3:c.78370_78371del (TTN)	NP_597676.3:p.Val26124PhefsTer4
NM_133437.4:c.78571_78572del (TTN)	NP_597681.4:p.Val26191PhefsTer4
NR_038271.1:n.446+7789_446+7790del (TTN-AS1)
NR_038272.1:n.220-4307_220-4306del (TTN-AS1)
XM_011511729.1:c.104287_104288del (TTN)	XP_011510031.1:p.Val34763PhefsTer4
XM_011511730.1:c.78181_78182del (TTN)	XP_011510032.1:p.Val26061PhefsTer4
XM_011511731.1:c.78040_78041del (TTN)	XP_011510033.1:p.Val26014PhefsTer4
XM_017004819.1:c.104083_104084del (TTN)	XP_016860308.1:p.Val34695PhefsTer4
XM_017004820.1:c.99481_99482del (TTN)	XP_016860309.1:p.Val33161PhefsTer4
XM_017004821.1:c.99478_99479del (TTN)	XP_016860310.1:p.Val33160PhefsTer4
XM_017004822.1:c.96520_96521del (TTN)	XP_016860311.1:p.Val32174PhefsTer4
XM_017004823.1:c.78136_78137del (TTN)	XP_016860312.1:p.Val26046PhefsTer4
XM_024453094.1:c.99631_99632del (TTN)	XP_024308862.1:p.Val33211PhefsTer4
XM_024453095.1:c.99628_99629del (TTN)	XP_024308863.1:p.Val33210PhefsTer4
XM_024453096.1:c.99061_99062del (TTN)	XP_024308864.1:p.Val33021PhefsTer4
XM_024453097.1:c.96403_96404del (TTN)	XP_024308865.1:p.Val32135PhefsTer4
XM_024453098.1:c.96322_96323del (TTN)	XP_024308866.1:p.Val32108PhefsTer4
XM_024453099.1:c.78085_78086del (TTN)	XP_024308867.1:p.Val26029PhefsTer4
XM_024453100.1:c.67939_67940del (TTN)	XP_024308868.1:p.Val22647PhefsTer4