Canonical Allele Identifier: CA16617382

Gene: TTN

Linked Data

• ClinVar Variation Id: 421600
• ClinVar RCV Id: RCV000479955
• dbSNP Id: rs1064795240
• gnomAD v4: 2-178733134-CAAG-C
• MyVariant Identifiers: chr2:g.179597862_179597864del (hg19) ; chr2:g.178733135_178733137del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178733138_178733140del , CM000664.2:g.178733138_178733140del	GRCh38
NC_000002.11:g.179597865_179597867del , CM000664.1:g.179597865_179597867del	GRCh37
NC_000002.10:g.179306110_179306112del	NCBI36
NG_011618.3:g.102666_102668del , LRG_391:g.102666_102668del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.12323-16_12323-14del	ENSP00000343764.6:n.12323-16_12323-14del
ENST00000342175.11:c.13858+4945_13858+4947del	ENSP00000340554.6:n.13858+4945_13858+4947...
ENST00000359218.10:c.13657+4945_13657+4947del	ENSP00000352154.5:n.13657+4945_13657+4947...
ENST00000342175.10:c.13858+4945_13858+4947del	ENSP00000340554.6:n.13858+4945_13858+4947...
ENST00000342992.10:c.12323-16_12323-14del	ENSP00000343764.6:n.12323-16_12323-14del
ENST00000359218.9:c.13657+4945_13657+4947del	ENSP00000352154.5:n.13657+4945_13657+4947...
ENST00000460472.6:c.13282+4945_13282+4947del	ENSP00000434586.1:n.13282+4945_13282+4947...
ENST00000589042.5:c.16055-16_16055-14del MANE Select	ENSP00000467141.1:n.16055-16_16055-14del
ENST00000591111.5:c.15104-16_15104-14del	ENSP00000465570.1:n.15104-16_15104-14del
ENST00000615779.4:c.15104-16_15104-14del	ENSP00000483597.1:n.15104-16_15104-14del
NM_001256850.1:c.15104-16_15104-14del	NP_001243779.1:n.15104-16_15104-14del
NM_001267550.2:c.16055-16_16055-14del MANE Select	NP_001254479.2:n.16055-16_16055-14del
NM_003319.4:c.13282+4945_13282+4947del	NP_003310.4:n.13282+4945_13282+4947del
NM_133378.4:c.12323-16_12323-14del	NP_596869.4:n.12323-16_12323-14del
NM_133432.3:c.13657+4945_13657+4947del	NP_597676.3:n.13657+4945_13657+4947del
NM_133437.4:c.13858+4945_13858+4947del	NP_597681.4:n.13858+4945_13858+4947del
XM_011511729.1:c.15152-16_15152-14del	XP_011510031.1:n.15152-16_15152-14del
XM_011511730.1:c.13468+4945_13468+4947del	XP_011510032.1:n.13468+4945_13468+4947del...
XM_011511731.1:c.13327+4945_13327+4947del	XP_011510033.1:n.13327+4945_13327+4947del...
XM_017004819.1:c.15107-16_15107-14del	XP_016860308.1:n.15107-16_15107-14del
XM_017004820.1:c.12326-16_12326-14del	XP_016860309.1:n.12326-16_12326-14del
XM_017004821.1:c.12323-16_12323-14del	XP_016860310.1:n.12323-16_12323-14del
XM_017004822.1:c.15107-16_15107-14del	XP_016860311.1:n.15107-16_15107-14del
XM_017004823.1:c.13423+4945_13423+4947del	XP_016860312.1:n.13423+4945_13423+4947del...
XM_024453094.1:c.15107-16_15107-14del	XP_024308862.1:n.15107-16_15107-14del
XM_024453095.1:c.15107-16_15107-14del	XP_024308863.1:n.15107-16_15107-14del
XM_024453096.1:c.15107-16_15107-14del	XP_024308864.1:n.15107-16_15107-14del
XM_024453097.1:c.15107-16_15107-14del	XP_024308865.1:n.15107-16_15107-14del
XM_024453098.1:c.15107-16_15107-14del	XP_024308866.1:n.15107-16_15107-14del
XM_024453099.1:c.13423+4945_13423+4947del	XP_024308867.1:n.13423+4945_13423+4947del...