Canonical Allele Identifier: CA10605859

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 287761
• ClinVar RCV Id: RCV000259741 ; RCV001170830 ; RCV003765651
• dbSNP Id: rs886043718
• gnomAD v4: 2-178609960-CTACA-C
• MyVariant Identifiers: chr2:g.179474688_179474691del (hg19) ; chr2:g.178609961_178609964del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609962_178609965del , CM000664.2:g.178609962_178609965del	GRCh38
NC_000002.11:g.179474689_179474692del , CM000664.1:g.179474689_179474692del	GRCh37
NC_000002.10:g.179182934_179182937del	NCBI36
NG_011618.3:g.225839_225842del , LRG_391:g.225839_225842del
NG_051363.1:g.92136_92139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.43755_43758del (TTN)	ENSP00000343764.6:p.Asp14585GlufsTer11
ENST00000342175.11:c.24840_24843del (TTN)	ENSP00000340554.6:p.Asp8280GlufsTer11
ENST00000359218.10:c.24639_24642del (TTN)	ENSP00000352154.5:p.Asp8213GlufsTer11
ENST00000342175.10:c.24840_24843del (TTN)	ENSP00000340554.6:p.Asp8280GlufsTer11
ENST00000342992.10:c.43755_43758del (TTN)	ENSP00000343764.6:p.Asp14585GlufsTer11
ENST00000359218.9:c.24639_24642del (TTN)	ENSP00000352154.5:p.Asp8213GlufsTer11
ENST00000460472.6:c.24264_24267del (TTN)	ENSP00000434586.1:p.Asp8088GlufsTer11
ENST00000589042.5:c.51459_51462del (TTN) MANE Select	ENSP00000467141.1:p.Asp17153GlufsTer11
ENST00000591111.5:c.46536_46539del (TTN)	ENSP00000465570.1:p.Asp15512GlufsTer11
ENST00000615779.4:c.46536_46539del (TTN)	ENSP00000483597.1:p.Asp15512GlufsTer11
NM_001256850.1:c.46536_46539del (TTN)	NP_001243779.1:p.Asp15512GlufsTer11
NM_001267550.2:c.51459_51462del (TTN) MANE Select	NP_001254479.2:p.Asp17153GlufsTer11
NM_003319.4:c.24264_24267del (TTN)	NP_003310.4:p.Asp8088GlufsTer11
NM_133378.4:c.43755_43758del (TTN)	NP_596869.4:p.Asp14585GlufsTer11
NM_133432.3:c.24639_24642del (TTN)	NP_597676.3:p.Asp8213GlufsTer11
NM_133437.4:c.24840_24843del (TTN)	NP_597681.4:p.Asp8280GlufsTer11
NR_038271.1:n.782+1696_782+1699del (TTN-AS1)
XM_011511729.1:c.50556_50559del (TTN)	XP_011510031.1:p.Asp16852GlufsTer11
XM_011511730.1:c.24450_24453del (TTN)	XP_011510032.1:p.Asp8150GlufsTer11
XM_011511731.1:c.24309_24312del (TTN)	XP_011510033.1:p.Asp8103GlufsTer11
XM_017004819.1:c.50352_50355del (TTN)	XP_016860308.1:p.Asp16784GlufsTer11
XM_017004820.1:c.45750_45753del (TTN)	XP_016860309.1:p.Asp15250GlufsTer11
XM_017004821.1:c.45747_45750del (TTN)	XP_016860310.1:p.Asp15249GlufsTer11
XM_017004822.1:c.42789_42792del (TTN)	XP_016860311.1:p.Asp14263GlufsTer11
XM_017004823.1:c.24405_24408del (TTN)	XP_016860312.1:p.Asp8135GlufsTer11
XM_024453094.1:c.45900_45903del (TTN)	XP_024308862.1:p.Asp15300GlufsTer11
XM_024453095.1:c.45897_45900del (TTN)	XP_024308863.1:p.Asp15299GlufsTer11
XM_024453096.1:c.45330_45333del (TTN)	XP_024308864.1:p.Asp15110GlufsTer11
XM_024453097.1:c.42672_42675del (TTN)	XP_024308865.1:p.Asp14224GlufsTer11
XM_024453098.1:c.42591_42594del (TTN)	XP_024308866.1:p.Asp14197GlufsTer11
XM_024453099.1:c.24354_24357del (TTN)	XP_024308867.1:p.Asp8118GlufsTer11
XM_024453100.1:c.14208_14211del (TTN)	XP_024308868.1:p.Asp4736GlufsTer11