Canonical Allele Identifier: CA2517469939

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178614557_178614558del , CM000664.2:g.178614557_178614558del	GRCh38
NC_000002.11:g.179479284_179479285del , CM000664.1:g.179479284_179479285del	GRCh37
NC_000002.10:g.179187529_179187530del	NCBI36
NG_011618.3:g.221245_221246del , LRG_391:g.221245_221246del
NG_051363.1:g.96731_96732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.41252_41253del (TTN)	ENSP00000343764.6:p.Val13751GlyfsTer2
ENST00000342175.11:c.22337_22338del (TTN)	ENSP00000340554.6:p.Val7446GlyfsTer2
ENST00000359218.10:c.22136_22137del (TTN)	ENSP00000352154.5:p.Val7379GlyfsTer2
ENST00000342175.10:c.22337_22338del (TTN)	ENSP00000340554.6:p.Val7446GlyfsTer2
ENST00000342992.10:c.41252_41253del (TTN)	ENSP00000343764.6:p.Val13751GlyfsTer2
ENST00000359218.9:c.22136_22137del (TTN)	ENSP00000352154.5:p.Val7379GlyfsTer2
ENST00000460472.6:c.21761_21762del (TTN)	ENSP00000434586.1:p.Val7254GlyfsTer2
ENST00000589042.5:c.48956_48957del (TTN) MANE Select	ENSP00000467141.1:p.Val16319GlyfsTer2
ENST00000591111.5:c.44033_44034del (TTN)	ENSP00000465570.1:p.Val14678GlyfsTer2
ENST00000615779.4:c.44033_44034del (TTN)	ENSP00000483597.1:p.Val14678GlyfsTer2
NM_001256850.1:c.44033_44034del (TTN)	NP_001243779.1:p.Val14678GlyfsTer2
NM_001267550.2:c.48956_48957del (TTN) MANE Select	NP_001254479.2:p.Val16319GlyfsTer2
NM_003319.4:c.21761_21762del (TTN)	NP_003310.4:p.Val7254GlyfsTer2
NM_133378.4:c.41252_41253del (TTN)	NP_596869.4:p.Val13751GlyfsTer2
NM_133432.3:c.22136_22137del (TTN)	NP_597676.3:p.Val7379GlyfsTer2
NM_133437.4:c.22337_22338del (TTN)	NP_597681.4:p.Val7446GlyfsTer2
NR_038271.1:n.1305_1306del (TTN-AS1)
XM_011511729.1:c.48053_48054del (TTN)	XP_011510031.1:p.Val16018GlyfsTer2
XM_011511730.1:c.21947_21948del (TTN)	XP_011510032.1:p.Val7316GlyfsTer2
XM_011511731.1:c.21806_21807del (TTN)	XP_011510033.1:p.Val7269GlyfsTer2
XM_017004819.1:c.47849_47850del (TTN)	XP_016860308.1:p.Val15950GlyfsTer2
XM_017004820.1:c.43247_43248del (TTN)	XP_016860309.1:p.Val14416GlyfsTer2
XM_017004821.1:c.43244_43245del (TTN)	XP_016860310.1:p.Val14415GlyfsTer2
XM_017004822.1:c.40286_40287del (TTN)	XP_016860311.1:p.Val13429GlyfsTer2
XM_017004823.1:c.21902_21903del (TTN)	XP_016860312.1:p.Val7301GlyfsTer2
XM_024453094.1:c.43397_43398del (TTN)	XP_024308862.1:p.Val14466GlyfsTer2
XM_024453095.1:c.43394_43395del (TTN)	XP_024308863.1:p.Val14465GlyfsTer2
XM_024453096.1:c.42827_42828del (TTN)	XP_024308864.1:p.Val14276GlyfsTer2
XM_024453097.1:c.40169_40170del (TTN)	XP_024308865.1:p.Val13390GlyfsTer2
XM_024453098.1:c.40088_40089del (TTN)	XP_024308866.1:p.Val13363GlyfsTer2
XM_024453099.1:c.21851_21852del (TTN)	XP_024308867.1:p.Val7284GlyfsTer2
XM_024453100.1:c.11705_11706del (TTN)	XP_024308868.1:p.Val3902GlyfsTer2