Canonical Allele Identifier: CA10604246

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178575378del , CM000664.2:g.178575378del	GRCh38
NC_000002.11:g.179440105del , CM000664.1:g.179440105del	GRCh37
NC_000002.10:g.179148351del	NCBI36
NG_011618.3:g.260425del , LRG_391:g.260425del
NG_051363.1:g.57552del

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.70754del (TTN) MANE Select	NP_001254479.2:p.Val23585GlyfsTer4
ENST00000589042.5:c.70754del (TTN) MANE Select	ENSP00000467141.1:p.Val23585GlyfsTer4
NM_001256850.1:c.65831del (TTN)	NP_001243779.1:p.Val21944GlyfsTer4
NM_003319.4:c.43559del (TTN)	NP_003310.4:p.Val14520GlyfsTer4
NM_133378.4:c.63050del (TTN)	NP_596869.4:p.Val21017GlyfsTer4
NM_133432.3:c.43934del (TTN)	NP_597676.3:p.Val14645GlyfsTer4
NM_133437.4:c.44135del (TTN)	NP_597681.4:p.Val14712GlyfsTer4
NR_038271.1:n.596+3929del (TTN-AS1)
NR_038272.1:n.2044-7194del (TTN-AS1)
ENST00000342175.10:c.44135del (TTN)	ENSP00000340554.6:p.Val14712GlyfsTer4
ENST00000342175.11:c.44135del (TTN)	ENSP00000340554.6:p.Val14712GlyfsTer4
ENST00000342992.10:c.63050del (TTN)	ENSP00000343764.6:p.Val21017GlyfsTer4
ENST00000342992.11:c.63050del (TTN)	ENSP00000343764.6:p.Val21017GlyfsTer4
ENST00000359218.10:c.43934del (TTN)	ENSP00000352154.5:p.Val14645GlyfsTer4
ENST00000359218.9:c.43934del (TTN)	ENSP00000352154.5:p.Val14645GlyfsTer4
ENST00000460472.6:c.43559del (TTN)	ENSP00000434586.1:p.Val14520GlyfsTer4
ENST00000591111.5:c.65831del (TTN)	ENSP00000465570.1:p.Val21944GlyfsTer4
ENST00000615779.4:c.65831del (TTN)	ENSP00000483597.1:p.Val21944GlyfsTer4
XM_011511729.1:c.69851del (TTN)	XP_011510031.1:p.Val23284GlyfsTer4
XM_011511730.1:c.43745del (TTN)	XP_011510032.1:p.Val14582GlyfsTer4
XM_011511731.1:c.43604del (TTN)	XP_011510033.1:p.Val14535GlyfsTer4
XM_017004819.1:c.69647del (TTN)	XP_016860308.1:p.Val23216GlyfsTer4
XM_017004820.1:c.65045del (TTN)	XP_016860309.1:p.Val21682GlyfsTer4
XM_017004821.1:c.65042del (TTN)	XP_016860310.1:p.Val21681GlyfsTer4
XM_017004822.1:c.62084del (TTN)	XP_016860311.1:p.Val20695GlyfsTer4
XM_017004823.1:c.43700del (TTN)	XP_016860312.1:p.Val14567GlyfsTer4
XM_024453094.1:c.65195del (TTN)	XP_024308862.1:p.Val21732GlyfsTer4
XM_024453095.1:c.65192del (TTN)	XP_024308863.1:p.Val21731GlyfsTer4
XM_024453096.1:c.64625del (TTN)	XP_024308864.1:p.Val21542GlyfsTer4
XM_024453097.1:c.61967del (TTN)	XP_024308865.1:p.Val20656GlyfsTer4
XM_024453098.1:c.61886del (TTN)	XP_024308866.1:p.Val20629GlyfsTer4
XM_024453099.1:c.43649del (TTN)	XP_024308867.1:p.Val14550GlyfsTer4
XM_024453100.1:c.33503del (TTN)	XP_024308868.1:p.Val11168GlyfsTer4