Canonical Allele Identifier: CA761288186

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1228143056
• gnomAD v3: 2-178532239-GAAGTC-G
• gnomAD v4: 2-178532239-GAAGTC-G
• MyVariant Identifiers: chr2:g.179396967_179396971del (hg19) ; chr2:g.178532240_178532244del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532244_178532248del , CM000664.2:g.178532244_178532248del	GRCh38
NC_000002.11:g.179396971_179396975del , CM000664.1:g.179396971_179396975del	GRCh37
NC_000002.10:g.179105217_179105221del	NCBI36
NG_011618.3:g.303559_303563del , LRG_391:g.303559_303563del
NG_051363.1:g.14418_14422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96667_96671del (TTN)	ENSP00000343764.6:p.Asp32223HisfsTer8
ENST00000342175.11:c.77752_77756del (TTN)	ENSP00000340554.6:p.Asp25918HisfsTer8
ENST00000359218.10:c.77551_77555del (TTN)	ENSP00000352154.5:p.Asp25851HisfsTer8
ENST00000342175.10:c.77752_77756del (TTN)	ENSP00000340554.6:p.Asp25918HisfsTer8
ENST00000342992.10:c.96667_96671del (TTN)	ENSP00000343764.6:p.Asp32223HisfsTer8
ENST00000359218.9:c.77551_77555del (TTN)	ENSP00000352154.5:p.Asp25851HisfsTer8
ENST00000460472.6:c.77176_77180del (TTN)	ENSP00000434586.1:p.Asp25726HisfsTer8
ENST00000589042.5:c.104371_104375del (TTN) MANE Select	ENSP00000467141.1:p.Asp34791HisfsTer8
ENST00000591111.5:c.99448_99452del (TTN)	ENSP00000465570.1:p.Asp33150HisfsTer8
ENST00000615779.4:c.99448_99452del (TTN)	ENSP00000483597.1:p.Asp33150HisfsTer8
NM_001256850.1:c.99448_99452del (TTN)	NP_001243779.1:p.Asp33150HisfsTer8
NM_001267550.2:c.104371_104375del (TTN) MANE Select	NP_001254479.2:p.Asp34791HisfsTer8
NM_003319.4:c.77176_77180del (TTN)	NP_003310.4:p.Asp25726HisfsTer8
NM_133378.4:c.96667_96671del (TTN)	NP_596869.4:p.Asp32223HisfsTer8
NM_133432.3:c.77551_77555del (TTN)	NP_597676.3:p.Asp25851HisfsTer8
NM_133437.4:c.77752_77756del (TTN)	NP_597681.4:p.Asp25918HisfsTer8
NR_038271.1:n.446+8608_446+8612del (TTN-AS1)
NR_038272.1:n.220-3488_220-3484del (TTN-AS1)
XM_011511729.1:c.103468_103472del (TTN)	XP_011510031.1:p.Asp34490HisfsTer8
XM_011511730.1:c.77362_77366del (TTN)	XP_011510032.1:p.Asp25788HisfsTer8
XM_011511731.1:c.77221_77225del (TTN)	XP_011510033.1:p.Asp25741HisfsTer8
XM_017004819.1:c.103264_103268del (TTN)	XP_016860308.1:p.Asp34422HisfsTer8
XM_017004820.1:c.98662_98666del (TTN)	XP_016860309.1:p.Asp32888HisfsTer8
XM_017004821.1:c.98659_98663del (TTN)	XP_016860310.1:p.Asp32887HisfsTer8
XM_017004822.1:c.95701_95705del (TTN)	XP_016860311.1:p.Asp31901HisfsTer8
XM_017004823.1:c.77317_77321del (TTN)	XP_016860312.1:p.Asp25773HisfsTer8
XM_024453094.1:c.98812_98816del (TTN)	XP_024308862.1:p.Asp32938HisfsTer8
XM_024453095.1:c.98809_98813del (TTN)	XP_024308863.1:p.Asp32937HisfsTer8
XM_024453096.1:c.98242_98246del (TTN)	XP_024308864.1:p.Asp32748HisfsTer8
XM_024453097.1:c.95584_95588del (TTN)	XP_024308865.1:p.Asp31862HisfsTer8
XM_024453098.1:c.95503_95507del (TTN)	XP_024308866.1:p.Asp31835HisfsTer8
XM_024453099.1:c.77266_77270del (TTN)	XP_024308867.1:p.Asp25756HisfsTer8
XM_024453100.1:c.67120_67124del (TTN)	XP_024308868.1:p.Asp22374HisfsTer8