Canonical Allele Identifier: CA60979809
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178780011_178780012insG , CM000664.2:g.178780011_178780012insG GRCh38
NC_000002.11:g.179644738_179644739insG , CM000664.1:g.179644738_179644739insG GRCh37
NC_000002.10:g.179352983_179352984insG NCBI36
NG_011618.3:g.55791_55792insC , LRG_391:g.55791_55792insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.3717_3718insC ENSP00000343764.6:p.Val1240ArgfsTer12
ENST00000342175.11:c.3579_3580insC ENSP00000340554.6:p.Val1194ArgfsTer12
ENST00000359218.10:c.3579_3580insC ENSP00000352154.5:p.Val1194ArgfsTer12
ENST00000360870.10:c.3717_3718insC MANE Plus Clinical ENSP00000354117.4:p.Val1240ArgfsTer12
ENST00000342175.10:c.3579_3580insC ENSP00000340554.6:p.Val1194ArgfsTer12
ENST00000342992.10:c.3717_3718insC ENSP00000343764.6:p.Val1240ArgfsTer12
ENST00000359218.9:c.3579_3580insC ENSP00000352154.5:p.Val1194ArgfsTer12
ENST00000360870.9:c.3717_3718insC ENSP00000354117.4:p.Val1240ArgfsTer12
ENST00000460472.6:c.3579_3580insC ENSP00000434586.1:p.Val1194ArgfsTer12
ENST00000589042.5:c.3717_3718insC MANE Select ENSP00000467141.1:p.Val1240ArgfsTer12
ENST00000591111.5:c.3717_3718insC ENSP00000465570.1:p.Val1240ArgfsTer12
ENST00000615779.4:c.3717_3718insC ENSP00000483597.1:p.Val1240ArgfsTer12
NM_001256850.1:c.3717_3718insC NP_001243779.1:p.Val1240ArgfsTer12
NM_001267550.2:c.3717_3718insC MANE Select NP_001254479.2:p.Val1240ArgfsTer12
NM_003319.4:c.3579_3580insC NP_003310.4:p.Val1194ArgfsTer12
NM_133378.4:c.3717_3718insC NP_596869.4:p.Val1240ArgfsTer12
NM_133379.4:c.3717_3718insC , LRG_391t2:c.3717_3718insC NP_596870.2:p.Val1240ArgfsTer12
NM_133432.3:c.3579_3580insC NP_597676.3:p.Val1194ArgfsTer12
NM_133437.4:c.3579_3580insC NP_597681.4:p.Val1194ArgfsTer12
XM_011511729.1:c.3765_3766insC XP_011510031.1:p.Val1256ArgfsTer12
XM_011511730.1:c.3765_3766insC XP_011510032.1:p.Val1256ArgfsTer12
XM_011511731.1:c.3624_3625insC XP_011510033.1:p.Val1209ArgfsTer12
XM_011511732.1:c.3762_3763insC XP_011510034.1:p.Val1255ArgfsTer12
XM_017004819.1:c.3720_3721insC XP_016860308.1:p.Val1241ArgfsTer12
XM_017004820.1:c.3720_3721insC XP_016860309.1:p.Val1241ArgfsTer12
XM_017004821.1:c.3717_3718insC XP_016860310.1:p.Val1240ArgfsTer12
XM_017004822.1:c.3720_3721insC XP_016860311.1:p.Val1241ArgfsTer12
XM_017004823.1:c.3720_3721insC XP_016860312.1:p.Val1241ArgfsTer12
XM_024453094.1:c.3720_3721insC XP_024308862.1:p.Val1241ArgfsTer12
XM_024453095.1:c.3720_3721insC XP_024308863.1:p.Val1241ArgfsTer12
XM_024453096.1:c.3720_3721insC XP_024308864.1:p.Val1241ArgfsTer12
XM_024453097.1:c.3720_3721insC XP_024308865.1:p.Val1241ArgfsTer12
XM_024453098.1:c.3720_3721insC XP_024308866.1:p.Val1241ArgfsTer12
XM_024453099.1:c.3720_3721insC XP_024308867.1:p.Val1241ArgfsTer12
NM_133379.5:c.3717_3718insC MANE Plus Clinical NP_596870.2:p.Val1240ArgfsTer12