Canonical Allele Identifier: CA1310618999
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178780009_178780021delinsTACATAAGTTCTG , CM000664.2:g.178780009_178780021delinsTACATAAGTTCTG GRCh38
NC_000002.11:g.179644736_179644748delinsTACATAAGTTCTG , CM000664.1:g.179644736_179644748delinsTACATAAGTTCTG GRCh37
NC_000002.10:g.179352981_179352993delinsTACATAAGTTCTG NCBI36
NG_011618.3:g.55782_55794delinsCAGAACTTATGTA , LRG_391:g.55782_55794delinsCAGAACTTATGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.3708_3720delinsCAGAACTTATGTA ENSP00000343764.6:p.Val1236=
ENST00000342175.11:c.3570_3582delinsCAGAACTTATGTA ENSP00000340554.6:p.Val1190=
ENST00000359218.10:c.3570_3582delinsCAGAACTTATGTA ENSP00000352154.5:p.Val1190=
ENST00000360870.10:c.3708_3720delinsCAGAACTTATGTA MANE Plus Clinical ENSP00000354117.4:p.Val1236=
ENST00000342175.10:c.3570_3582delinsCAGAACTTATGTA ENSP00000340554.6:p.Val1190=
ENST00000342992.10:c.3708_3720delinsCAGAACTTATGTA ENSP00000343764.6:p.Val1236=
ENST00000359218.9:c.3570_3582delinsCAGAACTTATGTA ENSP00000352154.5:p.Val1190=
ENST00000360870.9:c.3708_3720delinsCAGAACTTATGTA ENSP00000354117.4:p.Val1236=
ENST00000460472.6:c.3570_3582delinsCAGAACTTATGTA ENSP00000434586.1:p.Val1190=
ENST00000589042.5:c.3708_3720delinsCAGAACTTATGTA MANE Select ENSP00000467141.1:p.Val1236=
ENST00000591111.5:c.3708_3720delinsCAGAACTTATGTA ENSP00000465570.1:p.Val1236=
ENST00000615779.4:c.3708_3720delinsCAGAACTTATGTA ENSP00000483597.1:p.Val1236=
NM_001256850.1:c.3708_3720delinsCAGAACTTATGTA NP_001243779.1:p.Val1236=
NM_001267550.2:c.3708_3720delinsCAGAACTTATGTA MANE Select NP_001254479.2:p.Val1236=
NM_003319.4:c.3570_3582delinsCAGAACTTATGTA NP_003310.4:p.Val1190=
NM_133378.4:c.3708_3720delinsCAGAACTTATGTA NP_596869.4:p.Val1236=
NM_133379.4:c.3708_3720delinsCAGAACTTATGTA , LRG_391t2:c.3708_3720delinsCAGAACTTATGTA NP_596870.2:p.Val1236=
NM_133432.3:c.3570_3582delinsCAGAACTTATGTA NP_597676.3:p.Val1190=
NM_133437.4:c.3570_3582delinsCAGAACTTATGTA NP_597681.4:p.Val1190=
XM_011511729.1:c.3756_3768delinsCAGAACTTATGTA XP_011510031.1:p.Val1252=
XM_011511730.1:c.3756_3768delinsCAGAACTTATGTA XP_011510032.1:p.Val1252=
XM_011511731.1:c.3615_3627delinsCAGAACTTATGTA XP_011510033.1:p.Val1205=
XM_011511732.1:c.3753_3765delinsCAGAACTTATGTA XP_011510034.1:p.Val1251=
XM_017004819.1:c.3711_3723delinsCAGAACTTATGTA XP_016860308.1:p.Val1237=
XM_017004820.1:c.3711_3723delinsCAGAACTTATGTA XP_016860309.1:p.Val1237=
XM_017004821.1:c.3708_3720delinsCAGAACTTATGTA XP_016860310.1:p.Val1236=
XM_017004822.1:c.3711_3723delinsCAGAACTTATGTA XP_016860311.1:p.Val1237=
XM_017004823.1:c.3711_3723delinsCAGAACTTATGTA XP_016860312.1:p.Val1237=
XM_024453094.1:c.3711_3723delinsCAGAACTTATGTA XP_024308862.1:p.Val1237=
XM_024453095.1:c.3711_3723delinsCAGAACTTATGTA XP_024308863.1:p.Val1237=
XM_024453096.1:c.3711_3723delinsCAGAACTTATGTA XP_024308864.1:p.Val1237=
XM_024453097.1:c.3711_3723delinsCAGAACTTATGTA XP_024308865.1:p.Val1237=
XM_024453098.1:c.3711_3723delinsCAGAACTTATGTA XP_024308866.1:p.Val1237=
XM_024453099.1:c.3711_3723delinsCAGAACTTATGTA XP_024308867.1:p.Val1237=
NM_133379.5:c.3708_3720delinsCAGAACTTATGTA MANE Plus Clinical NP_596870.2:p.Val1236=