Canonical Allele Identifier: CA538437245

Gene: TTN

Linked Data

• dbSNP Id: rs1234375761
• gnomAD v2: 2-179553856-AGCTG-A
• gnomAD v3: 2-178689129-AGCTG-A
• gnomAD v4: 2-178689129-AGCTG-A
• MyVariant Identifiers: chr2:g.179553857_179553860del (hg19) ; chr2:g.178689130_178689133del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178689132_178689135del , CM000664.2:g.178689132_178689135del	GRCh38
NC_000002.11:g.179553859_179553862del , CM000664.1:g.179553859_179553862del	GRCh37
NC_000002.10:g.179262104_179262107del	NCBI36
NG_011618.3:g.146670_146673del , LRG_391:g.146670_146673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.28283_28286del	ENSP00000343764.6:p.Pro9428LeufsTer?
ENST00000342175.11:c.13859-46816_13859-46813del	ENSP00000340554.6:n.13859-46816_13859-46813del
ENST00000359218.10:c.13658-46816_13658-46813del	ENSP00000352154.5:n.13658-46816_13658-46813del
ENST00000342175.10:c.13859-46816_13859-46813del	ENSP00000340554.6:n.13859-46816_13859-46813del
ENST00000342992.10:c.28283_28286del	ENSP00000343764.6:p.Pro9428LeufsTer?
ENST00000359218.9:c.13658-46816_13658-46813del	ENSP00000352154.5:n.13658-46816_13658-46813del
ENST00000414766.5:c.1649_1652del	ENSP00000401501.1:p.Pro550LeufsTer28
ENST00000460472.6:c.13283-46816_13283-46813del	ENSP00000434586.1:n.13283-46816_13283-46813del
ENST00000589042.5:c.32015_32018del MANE Select	ENSP00000467141.1:p.Pro10672LeufsTer?
ENST00000591111.5:c.31064_31067del	ENSP00000465570.1:p.Pro10355LeufsTer?
ENST00000615779.4:c.31064_31067del	ENSP00000483597.1:p.Pro10355LeufsTer?
NM_001256850.1:c.31064_31067del	NP_001243779.1:p.Pro10355LeufsTer?
NM_001267550.2:c.32015_32018del MANE Select	NP_001254479.2:p.Pro10672LeufsTer?
NM_003319.4:c.13283-46816_13283-46813del	NP_003310.4:n.13283-46816_13283-46813del
NM_133378.4:c.28283_28286del	NP_596869.4:p.Pro9428LeufsTer?
NM_133432.3:c.13658-46816_13658-46813del	NP_597676.3:n.13658-46816_13658-46813del
NM_133437.4:c.13859-46816_13859-46813del	NP_597681.4:n.13859-46816_13859-46813del
XM_011511729.1:c.31112_31115del	XP_011510031.1:p.Pro10371LeufsTer?
XM_011511730.1:c.13469-46816_13469-46813del	XP_011510032.1:n.13469-46816_13469-46813del
XM_011511731.1:c.13328-46816_13328-46813del	XP_011510033.1:n.13328-46816_13328-46813del
XM_017004819.1:c.31067_31070del	XP_016860308.1:p.Pro10356LeufsTer?
XM_017004820.1:c.28286_28289del	XP_016860309.1:p.Pro9429LeufsTer?
XM_017004821.1:c.28283_28286del	XP_016860310.1:p.Pro9428LeufsTer?
XM_017004822.1:c.31067_31070del	XP_016860311.1:p.Pro10356LeufsTer28
XM_017004823.1:c.13424-46816_13424-46813del	XP_016860312.1:n.13424-46816_13424-46813del
XM_024453094.1:c.31067_31070del	XP_024308862.1:p.Pro10356LeufsTer?
XM_024453095.1:c.31067_31070del	XP_024308863.1:p.Pro10356LeufsTer?
XM_024453096.1:c.31067_31070del	XP_024308864.1:p.Pro10356LeufsTer?
XM_024453097.1:c.30898+680_30898+683del	XP_024308865.1:n.30898+680_30898+683del
XM_024453098.1:c.30898+680_30898+683del	XP_024308866.1:n.30898+680_30898+683del
XM_024453099.1:c.13424-46816_13424-46813del	XP_024308867.1:n.13424-46816_13424-46813del