Canonical Allele Identifier: CA16617374

Linked Data

ClinVar Variation Id: 423289
ClinVar RCV Id: RCV000486255
dbSNP Id: rs1064796347

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178615722_178615725del , CM000664.2:g.178615722_178615725del GRCh38
NC_000002.11:g.179480449_179480452del , CM000664.1:g.179480449_179480452del GRCh37
NC_000002.10:g.179188694_179188697del NCBI36
NG_011618.3:g.220081_220084del , LRG_391:g.220081_220084del
NG_051363.1:g.97896_97899del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.40675_40678del (TTN) ENSP00000343764.6:p.Phe13559LysfsTer20
ENST00000342175.11:c.21760_21763del (TTN) ENSP00000340554.6:p.Phe7254LysfsTer20
ENST00000359218.10:c.21559_21562del (TTN) ENSP00000352154.5:p.Phe7187LysfsTer20
ENST00000342175.10:c.21760_21763del (TTN) ENSP00000340554.6:p.Phe7254LysfsTer20
ENST00000342992.10:c.40675_40678del (TTN) ENSP00000343764.6:p.Phe13559LysfsTer20
ENST00000359218.9:c.21559_21562del (TTN) ENSP00000352154.5:p.Phe7187LysfsTer20
ENST00000460472.6:c.21184_21187del (TTN) ENSP00000434586.1:p.Phe7062LysfsTer20
ENST00000589042.5:c.48379_48382del (TTN) MANE Select ENSP00000467141.1:p.Phe16127LysfsTer20
ENST00000591111.5:c.43456_43459del (TTN) ENSP00000465570.1:p.Phe14486LysfsTer20
ENST00000615779.4:c.43456_43459del (TTN) ENSP00000483597.1:p.Phe14486LysfsTer20
NM_001256850.1:c.43456_43459del (TTN) NP_001243779.1:p.Phe14486LysfsTer20
NM_001267550.2:c.48379_48382del (TTN) MANE Select NP_001254479.2:p.Phe16127LysfsTer20
NM_003319.4:c.21184_21187del (TTN) NP_003310.4:p.Phe7062LysfsTer20
NM_133378.4:c.40675_40678del (TTN) NP_596869.4:p.Phe13559LysfsTer20
NM_133432.3:c.21559_21562del (TTN) NP_597676.3:p.Phe7187LysfsTer20
NM_133437.4:c.21760_21763del (TTN) NP_597681.4:p.Phe7254LysfsTer20
NR_038271.1:n.1604+348_1604+351del (TTN-AS1)
XM_011511729.1:c.47476_47479del (TTN) XP_011510031.1:p.Phe15826LysfsTer20
XM_011511730.1:c.21370_21373del (TTN) XP_011510032.1:p.Phe7124LysfsTer20
XM_011511731.1:c.21229_21232del (TTN) XP_011510033.1:p.Phe7077LysfsTer20
XM_017004819.1:c.47272_47275del (TTN) XP_016860308.1:p.Phe15758LysfsTer20
XM_017004820.1:c.42670_42673del (TTN) XP_016860309.1:p.Phe14224LysfsTer20
XM_017004821.1:c.42667_42670del (TTN) XP_016860310.1:p.Phe14223LysfsTer20
XM_017004822.1:c.39709_39712del (TTN) XP_016860311.1:p.Phe13237LysfsTer20
XM_017004823.1:c.21325_21328del (TTN) XP_016860312.1:p.Phe7109LysfsTer20
XM_024453094.1:c.42820_42823del (TTN) XP_024308862.1:p.Phe14274LysfsTer20
XM_024453095.1:c.42817_42820del (TTN) XP_024308863.1:p.Phe14273LysfsTer20
XM_024453096.1:c.42250_42253del (TTN) XP_024308864.1:p.Phe14084LysfsTer20
XM_024453097.1:c.39592_39595del (TTN) XP_024308865.1:p.Phe13198LysfsTer20
XM_024453098.1:c.39511_39514del (TTN) XP_024308866.1:p.Phe13171LysfsTer20
XM_024453099.1:c.21274_21277del (TTN) XP_024308867.1:p.Phe7092LysfsTer20
XM_024453100.1:c.11128_11131del (TTN) XP_024308868.1:p.Phe3710LysfsTer20