Canonical Allele Identifier: CA16610191

Linked Data

ClinVar Variation Id: 405180
ClinVar RCV Id: RCV000456387
dbSNP Id: rs1060500589

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533817_178533819delinsTATA , CM000664.2:g.178533817_178533819delinsTATA GRCh38
NC_000002.11:g.179398544_179398546delinsTATA , CM000664.1:g.179398544_179398546delinsTATA GRCh37
NC_000002.10:g.179106790_179106792delinsTATA NCBI36
NG_011618.3:g.301984_301986delinsTATA , LRG_391:g.301984_301986delinsTATA
NG_051363.1:g.15991_15993delinsTATA

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.95092_95094delinsTATA (TTN) ENSP00000343764.6:p.Asn31698TyrfsTer8
ENST00000342175.11:c.76177_76179delinsTATA (TTN) ENSP00000340554.6:p.Asn25393TyrfsTer8
ENST00000359218.10:c.75976_75978delinsTATA (TTN) ENSP00000352154.5:p.Asn25326TyrfsTer8
ENST00000342175.10:c.76177_76179delinsTATA (TTN) ENSP00000340554.6:p.Asn25393TyrfsTer8
ENST00000342992.10:c.95092_95094delinsTATA (TTN) ENSP00000343764.6:p.Asn31698TyrfsTer8
ENST00000359218.9:c.75976_75978delinsTATA (TTN) ENSP00000352154.5:p.Asn25326TyrfsTer8
ENST00000460472.6:c.75601_75603delinsTATA (TTN) ENSP00000434586.1:p.Asn25201TyrfsTer8
ENST00000589042.5:c.102796_102798delinsTATA (TTN) MANE Select ENSP00000467141.1:p.Asn34266TyrfsTer8
ENST00000591111.5:c.97873_97875delinsTATA (TTN) ENSP00000465570.1:p.Asn32625TyrfsTer8
ENST00000615779.4:c.97873_97875delinsTATA (TTN) ENSP00000483597.1:p.Asn32625TyrfsTer8
NM_001256850.1:c.97873_97875delinsTATA (TTN) NP_001243779.1:p.Asn32625TyrfsTer8
NM_001267550.2:c.102796_102798delinsTATA (TTN) MANE Select NP_001254479.2:p.Asn34266TyrfsTer8
NM_003319.4:c.75601_75603delinsTATA (TTN) NP_003310.4:p.Asn25201TyrfsTer8
NM_133378.4:c.95092_95094delinsTATA (TTN) NP_596869.4:p.Asn31698TyrfsTer8
NM_133432.3:c.75976_75978delinsTATA (TTN) NP_597676.3:p.Asn25326TyrfsTer8
NM_133437.4:c.76177_76179delinsTATA (TTN) NP_597681.4:p.Asn25393TyrfsTer8
NR_038271.1:n.446+10181_446+10183delinsTATA (TTN-AS1)
NR_038272.1:n.220-1915_220-1913delinsTATA (TTN-AS1)
XM_011511729.1:c.101893_101895delinsTATA (TTN) XP_011510031.1:p.Asn33965TyrfsTer8
XM_011511730.1:c.75787_75789delinsTATA (TTN) XP_011510032.1:p.Asn25263TyrfsTer8
XM_011511731.1:c.75646_75648delinsTATA (TTN) XP_011510033.1:p.Asn25216TyrfsTer8
XM_017004819.1:c.101689_101691delinsTATA (TTN) XP_016860308.1:p.Asn33897TyrfsTer8
XM_017004820.1:c.97087_97089delinsTATA (TTN) XP_016860309.1:p.Asn32363TyrfsTer8
XM_017004821.1:c.97084_97086delinsTATA (TTN) XP_016860310.1:p.Asn32362TyrfsTer8
XM_017004822.1:c.94126_94128delinsTATA (TTN) XP_016860311.1:p.Asn31376TyrfsTer8
XM_017004823.1:c.75742_75744delinsTATA (TTN) XP_016860312.1:p.Asn25248TyrfsTer8
XM_024453094.1:c.97237_97239delinsTATA (TTN) XP_024308862.1:p.Asn32413TyrfsTer8
XM_024453095.1:c.97234_97236delinsTATA (TTN) XP_024308863.1:p.Asn32412TyrfsTer8
XM_024453096.1:c.96667_96669delinsTATA (TTN) XP_024308864.1:p.Asn32223TyrfsTer8
XM_024453097.1:c.94009_94011delinsTATA (TTN) XP_024308865.1:p.Asn31337TyrfsTer8
XM_024453098.1:c.93928_93930delinsTATA (TTN) XP_024308866.1:p.Asn31310TyrfsTer8
XM_024453099.1:c.75691_75693delinsTATA (TTN) XP_024308867.1:p.Asn25231TyrfsTer8
XM_024453100.1:c.65545_65547delinsTATA (TTN) XP_024308868.1:p.Asn21849TyrfsTer8