Canonical Allele Identifier: CA538434968

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1428236484
• gnomAD v2: 2-179395264-CACAA-C
• gnomAD v4: 2-178530537-CACAA-C
• MyVariant Identifiers: chr2:g.179395265_179395268del (hg19) ; chr2:g.178530538_178530541del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530541_178530544del , CM000664.2:g.178530541_178530544del	GRCh38
NC_000002.11:g.179395268_179395271del , CM000664.1:g.179395268_179395271del	GRCh37
NC_000002.10:g.179103514_179103517del	NCBI36
NG_011618.3:g.305262_305265del , LRG_391:g.305262_305265del
NG_051363.1:g.12715_12718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98370_98373del (TTN)	ENSP00000343764.6:p.Cys32791ArgfsTer?
ENST00000342175.11:c.79455_79458del (TTN)	ENSP00000340554.6:p.Cys26486ArgfsTer?
ENST00000359218.10:c.79254_79257del (TTN)	ENSP00000352154.5:p.Cys26419ArgfsTer?
ENST00000342175.10:c.79455_79458del (TTN)	ENSP00000340554.6:p.Cys26486ArgfsTer?
ENST00000342992.10:c.98370_98373del (TTN)	ENSP00000343764.6:p.Cys32791ArgfsTer?
ENST00000359218.9:c.79254_79257del (TTN)	ENSP00000352154.5:p.Cys26419ArgfsTer?
ENST00000460472.6:c.78879_78882del (TTN)	ENSP00000434586.1:p.Cys26294ArgfsTer?
ENST00000589042.5:c.106074_106077del (TTN) MANE Select	ENSP00000467141.1:p.Cys35359ArgfsTer?
ENST00000591111.5:c.101151_101154del (TTN)	ENSP00000465570.1:p.Cys33718ArgfsTer?
ENST00000615779.4:c.101151_101154del (TTN)	ENSP00000483597.1:p.Cys33718ArgfsTer?
NM_001256850.1:c.101151_101154del (TTN)	NP_001243779.1:p.Cys33718ArgfsTer?
NM_001267550.2:c.106074_106077del (TTN) MANE Select	NP_001254479.2:p.Cys35359ArgfsTer?
NM_003319.4:c.78879_78882del (TTN)	NP_003310.4:p.Cys26294ArgfsTer?
NM_133378.4:c.98370_98373del (TTN)	NP_596869.4:p.Cys32791ArgfsTer?
NM_133432.3:c.79254_79257del (TTN)	NP_597676.3:p.Cys26419ArgfsTer?
NM_133437.4:c.79455_79458del (TTN)	NP_597681.4:p.Cys26486ArgfsTer?
NR_038271.1:n.446+6905_446+6908del (TTN-AS1)
NR_038272.1:n.220-5191_220-5188del (TTN-AS1)
XM_011511729.1:c.105171_105174del (TTN)	XP_011510031.1:p.Cys35058ArgfsTer?
XM_011511730.1:c.79065_79068del (TTN)	XP_011510032.1:p.Cys26356ArgfsTer?
XM_011511731.1:c.78924_78927del (TTN)	XP_011510033.1:p.Cys26309ArgfsTer?
XM_017004819.1:c.104967_104970del (TTN)	XP_016860308.1:p.Cys34990ArgfsTer?
XM_017004820.1:c.100365_100368del (TTN)	XP_016860309.1:p.Cys33456ArgfsTer?
XM_017004821.1:c.100362_100365del (TTN)	XP_016860310.1:p.Cys33455ArgfsTer?
XM_017004822.1:c.97404_97407del (TTN)	XP_016860311.1:p.Cys32469ArgfsTer?
XM_017004823.1:c.79020_79023del (TTN)	XP_016860312.1:p.Cys26341ArgfsTer?
XM_024453094.1:c.100515_100518del (TTN)	XP_024308862.1:p.Cys33506ArgfsTer?
XM_024453095.1:c.100512_100515del (TTN)	XP_024308863.1:p.Cys33505ArgfsTer?
XM_024453096.1:c.99945_99948del (TTN)	XP_024308864.1:p.Cys33316ArgfsTer?
XM_024453097.1:c.97287_97290del (TTN)	XP_024308865.1:p.Cys32430ArgfsTer?
XM_024453098.1:c.97206_97209del (TTN)	XP_024308866.1:p.Cys32403ArgfsTer?
XM_024453099.1:c.78969_78972del (TTN)	XP_024308867.1:p.Cys26324ArgfsTer?
XM_024453100.1:c.68823_68826del (TTN)	XP_024308868.1:p.Cys22942ArgfsTer?