Canonical Allele Identifier: CA2586965238

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543853-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543854dup , CM000664.2:g.178543854dup	GRCh38
NC_000002.11:g.179408581dup , CM000664.1:g.179408581dup	GRCh37
NC_000002.10:g.179116827dup	NCBI36
NG_011618.3:g.291949dup , LRG_391:g.291949dup
NG_051363.1:g.26028dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88586dup (TTN)	ENSP00000343764.6:p.Val29530SerfsTer4
ENST00000342175.11:c.69671dup (TTN)	ENSP00000340554.6:p.Val23225SerfsTer4
ENST00000359218.10:c.69470dup (TTN)	ENSP00000352154.5:p.Val23158SerfsTer4
ENST00000342175.10:c.69671dup (TTN)	ENSP00000340554.6:p.Val23225SerfsTer4
ENST00000342992.10:c.88586dup (TTN)	ENSP00000343764.6:p.Val29530SerfsTer4
ENST00000359218.9:c.69470dup (TTN)	ENSP00000352154.5:p.Val23158SerfsTer4
ENST00000460472.6:c.69095dup (TTN)	ENSP00000434586.1:p.Val23033SerfsTer4
ENST00000589042.5:c.96290dup (TTN) MANE Select	ENSP00000467141.1:p.Val32098SerfsTer4
ENST00000591111.5:c.91367dup (TTN)	ENSP00000465570.1:p.Val30457SerfsTer4
ENST00000615779.4:c.91367dup (TTN)	ENSP00000483597.1:p.Val30457SerfsTer4
NM_001256850.1:c.91367dup (TTN)	NP_001243779.1:p.Val30457SerfsTer4
NM_001267550.2:c.96290dup (TTN) MANE Select	NP_001254479.2:p.Val32098SerfsTer4
NM_003319.4:c.69095dup (TTN)	NP_003310.4:p.Val23033SerfsTer4
NM_133378.4:c.88586dup (TTN)	NP_596869.4:p.Val29530SerfsTer4
NM_133432.3:c.69470dup (TTN)	NP_597676.3:p.Val23158SerfsTer4
NM_133437.4:c.69671dup (TTN)	NP_597681.4:p.Val23225SerfsTer4
NR_038271.1:n.446+20218dup (TTN-AS1)
NR_038272.1:n.2043+1493dup (TTN-AS1)
XM_011511729.1:c.95387dup (TTN)	XP_011510031.1:p.Val31797SerfsTer4
XM_011511730.1:c.69281dup (TTN)	XP_011510032.1:p.Val23095SerfsTer4
XM_011511731.1:c.69140dup (TTN)	XP_011510033.1:p.Val23048SerfsTer4
XM_017004819.1:c.95183dup (TTN)	XP_016860308.1:p.Val31729SerfsTer4
XM_017004820.1:c.90581dup (TTN)	XP_016860309.1:p.Val30195SerfsTer4
XM_017004821.1:c.90578dup (TTN)	XP_016860310.1:p.Val30194SerfsTer4
XM_017004822.1:c.87620dup (TTN)	XP_016860311.1:p.Val29208SerfsTer4
XM_017004823.1:c.69236dup (TTN)	XP_016860312.1:p.Val23080SerfsTer4
XM_024453094.1:c.90731dup (TTN)	XP_024308862.1:p.Val30245SerfsTer4
XM_024453095.1:c.90728dup (TTN)	XP_024308863.1:p.Val30244SerfsTer4
XM_024453096.1:c.90161dup (TTN)	XP_024308864.1:p.Val30055SerfsTer4
XM_024453097.1:c.87503dup (TTN)	XP_024308865.1:p.Val29169SerfsTer4
XM_024453098.1:c.87422dup (TTN)	XP_024308866.1:p.Val29142SerfsTer4
XM_024453099.1:c.69185dup (TTN)	XP_024308867.1:p.Val23063SerfsTer4
XM_024453100.1:c.59039dup (TTN)	XP_024308868.1:p.Val19681SerfsTer4