Canonical Allele Identifier: CA2972400337

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178740577_178740583del , CM000664.2:g.178740577_178740583del	GRCh38
NC_000002.11:g.179605304_179605310del , CM000664.1:g.179605304_179605310del	GRCh37
NC_000002.10:g.179313549_179313555del	NCBI36
NG_011618.3:g.95220_95226del , LRG_391:g.95220_95226del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.10361-2223_10361-2217del	ENSP00000343764.6:n.10361-2223_10361-2217del
ENST00000342175.11:c.12137_12143del	ENSP00000340554.6:p.Ser4046TyrfsTer8
ENST00000359218.10:c.11936_11942del	ENSP00000352154.5:p.Ser3979TyrfsTer8
ENST00000342175.10:c.12137_12143del	ENSP00000340554.6:p.Ser4046TyrfsTer8
ENST00000342992.10:c.10361-2223_10361-2217del	ENSP00000343764.6:n.10361-2223_10361-2217del
ENST00000359218.9:c.11936_11942del	ENSP00000352154.5:p.Ser3979TyrfsTer8
ENST00000460472.6:c.11561_11567del	ENSP00000434586.1:p.Ser3854TyrfsTer8
ENST00000589042.5:c.12650_12656del MANE Select	ENSP00000467141.1:p.Ser4217TyrfsTer8
ENST00000591111.5:c.11699_11705del	ENSP00000465570.1:p.Ser3900TyrfsTer8
ENST00000615779.4:c.11699_11705del	ENSP00000483597.1:p.Ser3900TyrfsTer8
NM_001256850.1:c.11699_11705del	NP_001243779.1:p.Ser3900TyrfsTer8
NM_001267550.2:c.12650_12656del MANE Select	NP_001254479.2:p.Ser4217TyrfsTer8
NM_003319.4:c.11561_11567del	NP_003310.4:p.Ser3854TyrfsTer8
NM_133378.4:c.10361-2223_10361-2217del	NP_596869.4:n.10361-2223_10361-2217del
NM_133432.3:c.11936_11942del	NP_597676.3:p.Ser3979TyrfsTer8
NM_133437.4:c.12137_12143del	NP_597681.4:p.Ser4046TyrfsTer8
XM_011511729.1:c.11747_11753del	XP_011510031.1:p.Ser3916TyrfsTer8
XM_011511730.1:c.11747_11753del	XP_011510032.1:p.Ser3916TyrfsTer8
XM_011511731.1:c.11606_11612del	XP_011510033.1:p.Ser3869TyrfsTer8
XM_017004819.1:c.11702_11708del	XP_016860308.1:p.Ser3901TyrfsTer8
XM_017004820.1:c.10364-2223_10364-2217del	XP_016860309.1:n.10364-2223_10364-2217del
XM_017004821.1:c.10361-2223_10361-2217del	XP_016860310.1:n.10361-2223_10361-2217del
XM_017004822.1:c.11702_11708del	XP_016860311.1:p.Ser3901TyrfsTer8
XM_017004823.1:c.11702_11708del	XP_016860312.1:p.Ser3901TyrfsTer8
XM_024453094.1:c.11702_11708del	XP_024308862.1:p.Ser3901TyrfsTer8
XM_024453095.1:c.11702_11708del	XP_024308863.1:p.Ser3901TyrfsTer8
XM_024453096.1:c.11702_11708del	XP_024308864.1:p.Ser3901TyrfsTer8
XM_024453097.1:c.11702_11708del	XP_024308865.1:p.Ser3901TyrfsTer8
XM_024453098.1:c.11702_11708del	XP_024308866.1:p.Ser3901TyrfsTer8
XM_024453099.1:c.11702_11708del	XP_024308867.1:p.Ser3901TyrfsTer8