Canonical Allele Identifier: CA2662125758

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530414-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530415del , CM000664.2:g.178530415del	GRCh38
NC_000002.11:g.179395142del , CM000664.1:g.179395142del	GRCh37
NC_000002.10:g.179103388del	NCBI36
NG_011618.3:g.305388del , LRG_391:g.305388del
NG_051363.1:g.12589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98496del (TTN)	ENSP00000343764.6:p.Glu32833SerfsTer4
ENST00000342175.11:c.79581del (TTN)	ENSP00000340554.6:p.Glu26528SerfsTer4
ENST00000359218.10:c.79380del (TTN)	ENSP00000352154.5:p.Glu26461SerfsTer4
ENST00000342175.10:c.79581del (TTN)	ENSP00000340554.6:p.Glu26528SerfsTer4
ENST00000342992.10:c.98496del (TTN)	ENSP00000343764.6:p.Glu32833SerfsTer4
ENST00000359218.9:c.79380del (TTN)	ENSP00000352154.5:p.Glu26461SerfsTer4
ENST00000460472.6:c.79005del (TTN)	ENSP00000434586.1:p.Glu26336SerfsTer4
ENST00000589042.5:c.106200del (TTN) MANE Select	ENSP00000467141.1:p.Glu35401SerfsTer4
ENST00000591111.5:c.101277del (TTN)	ENSP00000465570.1:p.Glu33760SerfsTer4
ENST00000615779.4:c.101277del (TTN)	ENSP00000483597.1:p.Glu33760SerfsTer4
NM_001256850.1:c.101277del (TTN)	NP_001243779.1:p.Glu33760SerfsTer4
NM_001267550.2:c.106200del (TTN) MANE Select	NP_001254479.2:p.Glu35401SerfsTer4
NM_003319.4:c.79005del (TTN)	NP_003310.4:p.Glu26336SerfsTer4
NM_133378.4:c.98496del (TTN)	NP_596869.4:p.Glu32833SerfsTer4
NM_133432.3:c.79380del (TTN)	NP_597676.3:p.Glu26461SerfsTer4
NM_133437.4:c.79581del (TTN)	NP_597681.4:p.Glu26528SerfsTer4
NR_038271.1:n.446+6779del (TTN-AS1)
NR_038272.1:n.220-5317del (TTN-AS1)
XM_011511729.1:c.105297del (TTN)	XP_011510031.1:p.Glu35100SerfsTer4
XM_011511730.1:c.79191del (TTN)	XP_011510032.1:p.Glu26398SerfsTer4
XM_011511731.1:c.79050del (TTN)	XP_011510033.1:p.Glu26351SerfsTer4
XM_017004819.1:c.105093del (TTN)	XP_016860308.1:p.Glu35032SerfsTer4
XM_017004820.1:c.100491del (TTN)	XP_016860309.1:p.Glu33498SerfsTer4
XM_017004821.1:c.100488del (TTN)	XP_016860310.1:p.Glu33497SerfsTer4
XM_017004822.1:c.97530del (TTN)	XP_016860311.1:p.Glu32511SerfsTer4
XM_017004823.1:c.79146del (TTN)	XP_016860312.1:p.Glu26383SerfsTer4
XM_024453094.1:c.100641del (TTN)	XP_024308862.1:p.Glu33548SerfsTer4
XM_024453095.1:c.100638del (TTN)	XP_024308863.1:p.Glu33547SerfsTer4
XM_024453096.1:c.100071del (TTN)	XP_024308864.1:p.Glu33358SerfsTer4
XM_024453097.1:c.97413del (TTN)	XP_024308865.1:p.Glu32472SerfsTer4
XM_024453098.1:c.97332del (TTN)	XP_024308866.1:p.Glu32445SerfsTer4
XM_024453099.1:c.79095del (TTN)	XP_024308867.1:p.Glu26366SerfsTer4
XM_024453100.1:c.68949del (TTN)	XP_024308868.1:p.Glu22984SerfsTer4