Canonical Allele Identifier: CA16610483

Linked Data

dbSNP Id: rs1060500513

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178612455_178612456del , CM000664.2:g.178612455_178612456del GRCh38
NC_000002.11:g.179477182_179477183del , CM000664.1:g.179477182_179477183del GRCh37
NC_000002.10:g.179185427_179185428del NCBI36
NG_011618.3:g.223352_223353del , LRG_391:g.223352_223353del
NG_051363.1:g.94629_94630del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.42370_42371del (TTN) ENSP00000343764.6:p.Asp14124ArgfsTer25
ENST00000342175.11:c.23455_23456del (TTN) ENSP00000340554.6:p.Asp7819ArgfsTer25
ENST00000359218.10:c.23254_23255del (TTN) ENSP00000352154.5:p.Asp7752ArgfsTer25
ENST00000342175.10:c.23455_23456del (TTN) ENSP00000340554.6:p.Asp7819ArgfsTer25
ENST00000342992.10:c.42370_42371del (TTN) ENSP00000343764.6:p.Asp14124ArgfsTer25
ENST00000359218.9:c.23254_23255del (TTN) ENSP00000352154.5:p.Asp7752ArgfsTer25
ENST00000460472.6:c.22879_22880del (TTN) ENSP00000434586.1:p.Asp7627ArgfsTer25
ENST00000589042.5:c.50074_50075del (TTN) MANE Select ENSP00000467141.1:p.Asp16692ArgfsTer25
ENST00000591111.5:c.45151_45152del (TTN) ENSP00000465570.1:p.Asp15051ArgfsTer25
ENST00000615779.4:c.45151_45152del (TTN) ENSP00000483597.1:p.Asp15051ArgfsTer25
NM_001256850.1:c.45151_45152del (TTN) NP_001243779.1:p.Asp15051ArgfsTer25
NM_001267550.2:c.50074_50075del (TTN) MANE Select NP_001254479.2:p.Asp16692ArgfsTer25
NM_003319.4:c.22879_22880del (TTN) NP_003310.4:p.Asp7627ArgfsTer25
NM_133378.4:c.42370_42371del (TTN) NP_596869.4:p.Asp14124ArgfsTer25
NM_133432.3:c.23254_23255del (TTN) NP_597676.3:p.Asp7752ArgfsTer25
NM_133437.4:c.23455_23456del (TTN) NP_597681.4:p.Asp7819ArgfsTer25
NR_038271.1:n.783-1580_783-1579del (TTN-AS1)
XM_011511729.1:c.49171_49172del (TTN) XP_011510031.1:p.Asp16391ArgfsTer25
XM_011511730.1:c.23065_23066del (TTN) XP_011510032.1:p.Asp7689ArgfsTer25
XM_011511731.1:c.22924_22925del (TTN) XP_011510033.1:p.Asp7642ArgfsTer25
XM_017004819.1:c.48967_48968del (TTN) XP_016860308.1:p.Asp16323ArgfsTer25
XM_017004820.1:c.44365_44366del (TTN) XP_016860309.1:p.Asp14789ArgfsTer25
XM_017004821.1:c.44362_44363del (TTN) XP_016860310.1:p.Asp14788ArgfsTer25
XM_017004822.1:c.41404_41405del (TTN) XP_016860311.1:p.Asp13802ArgfsTer25
XM_017004823.1:c.23020_23021del (TTN) XP_016860312.1:p.Asp7674ArgfsTer25
XM_024453094.1:c.44515_44516del (TTN) XP_024308862.1:p.Asp14839ArgfsTer25
XM_024453095.1:c.44512_44513del (TTN) XP_024308863.1:p.Asp14838ArgfsTer25
XM_024453096.1:c.43945_43946del (TTN) XP_024308864.1:p.Asp14649ArgfsTer25
XM_024453097.1:c.41287_41288del (TTN) XP_024308865.1:p.Asp13763ArgfsTer25
XM_024453098.1:c.41206_41207del (TTN) XP_024308866.1:p.Asp13736ArgfsTer25
XM_024453099.1:c.22969_22970del (TTN) XP_024308867.1:p.Asp7657ArgfsTer25
XM_024453100.1:c.12823_12824del (TTN) XP_024308868.1:p.Asp4275ArgfsTer25