Canonical Allele Identifier: CA1993111

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178598532_178598534del , CM000664.2:g.178598532_178598534del GRCh38
NC_000002.11:g.179463259_179463261del , CM000664.1:g.179463259_179463261del GRCh37
NC_000002.10:g.179171504_179171506del NCBI36
NG_011618.3:g.237275_237277del , LRG_391:g.237275_237277del
NG_051363.1:g.80706_80708del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.49385_49387del (TTN) ENSP00000343764.6:p.Glu16462del
ENST00000342175.11:c.30470_30472del (TTN) ENSP00000340554.6:p.Glu10157del
ENST00000359218.10:c.30269_30271del (TTN) ENSP00000352154.5:p.Glu10090del
ENST00000342175.10:c.30470_30472del (TTN) ENSP00000340554.6:p.Glu10157del
ENST00000342992.10:c.49385_49387del (TTN) ENSP00000343764.6:p.Glu16462del
ENST00000359218.9:c.30269_30271del (TTN) ENSP00000352154.5:p.Glu10090del
ENST00000460472.6:c.29894_29896del (TTN) ENSP00000434586.1:p.Glu9965del
ENST00000589042.5:c.57089_57091del (TTN) MANE Select ENSP00000467141.1:p.Glu19030del
ENST00000591111.5:c.52166_52168del (TTN) ENSP00000465570.1:p.Glu17389del
ENST00000615779.4:c.52166_52168del (TTN) ENSP00000483597.1:p.Glu17389del
NM_001256850.1:c.52166_52168del (TTN) NP_001243779.1:p.Glu17389del
NM_001267550.2:c.57089_57091del (TTN) MANE Select NP_001254479.2:p.Glu19030del
NM_003319.4:c.29894_29896del (TTN) NP_003310.4:p.Glu9965del
NM_133378.4:c.49385_49387del (TTN) NP_596869.4:p.Glu16462del
NM_133432.3:c.30269_30271del (TTN) NP_597676.3:p.Glu10090del
NM_133437.4:c.30470_30472del (TTN) NP_597681.4:p.Glu10157del
NR_038271.1:n.682+851_682+853del (TTN-AS1)
NR_038272.1:n.3451-24_3451-22del (TTN-AS1)
XM_011511729.1:c.56186_56188del (TTN) XP_011510031.1:p.Glu18729del
XM_011511730.1:c.30080_30082del (TTN) XP_011510032.1:p.Glu10027del
XM_011511731.1:c.29939_29941del (TTN) XP_011510033.1:p.Glu9980del
XM_017004819.1:c.55982_55984del (TTN) XP_016860308.1:p.Glu18661del
XM_017004820.1:c.51380_51382del (TTN) XP_016860309.1:p.Glu17127del
XM_017004821.1:c.51377_51379del (TTN) XP_016860310.1:p.Glu17126del
XM_017004822.1:c.48419_48421del (TTN) XP_016860311.1:p.Glu16140del
XM_017004823.1:c.30035_30037del (TTN) XP_016860312.1:p.Glu10012del
XM_024453094.1:c.51530_51532del (TTN) XP_024308862.1:p.Glu17177del
XM_024453095.1:c.51527_51529del (TTN) XP_024308863.1:p.Glu17176del
XM_024453096.1:c.50960_50962del (TTN) XP_024308864.1:p.Glu16987del
XM_024453097.1:c.48302_48304del (TTN) XP_024308865.1:p.Glu16101del
XM_024453098.1:c.48221_48223del (TTN) XP_024308866.1:p.Glu16074del
XM_024453099.1:c.29984_29986del (TTN) XP_024308867.1:p.Glu9995del
XM_024453100.1:c.19838_19840del (TTN) XP_024308868.1:p.Glu6613del