Canonical Allele Identifier: CA1039708707

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1689444374
• gnomAD v3: 2-178532229-CCTT-C
• gnomAD v4: 2-178532229-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532230_178532232del , CM000664.2:g.178532230_178532232del	GRCh38
NC_000002.11:g.179396957_179396959del , CM000664.1:g.179396957_179396959del	GRCh37
NC_000002.10:g.179105203_179105205del	NCBI36
NG_011618.3:g.303571_303573del , LRG_391:g.303571_303573del
NG_051363.1:g.14404_14406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96679_96681del (TTN)	ENSP00000343764.6:p.Lys32227del
ENST00000342175.11:c.77764_77766del (TTN)	ENSP00000340554.6:p.Lys25922del
ENST00000359218.10:c.77563_77565del (TTN)	ENSP00000352154.5:p.Lys25855del
ENST00000342175.10:c.77764_77766del (TTN)	ENSP00000340554.6:p.Lys25922del
ENST00000342992.10:c.96679_96681del (TTN)	ENSP00000343764.6:p.Lys32227del
ENST00000359218.9:c.77563_77565del (TTN)	ENSP00000352154.5:p.Lys25855del
ENST00000460472.6:c.77188_77190del (TTN)	ENSP00000434586.1:p.Lys25730del
ENST00000589042.5:c.104383_104385del (TTN) MANE Select	ENSP00000467141.1:p.Lys34795del
ENST00000591111.5:c.99460_99462del (TTN)	ENSP00000465570.1:p.Lys33154del
ENST00000615779.4:c.99460_99462del (TTN)	ENSP00000483597.1:p.Lys33154del
NM_001256850.1:c.99460_99462del (TTN)	NP_001243779.1:p.Lys33154del
NM_001267550.2:c.104383_104385del (TTN) MANE Select	NP_001254479.2:p.Lys34795del
NM_003319.4:c.77188_77190del (TTN)	NP_003310.4:p.Lys25730del
NM_133378.4:c.96679_96681del (TTN)	NP_596869.4:p.Lys32227del
NM_133432.3:c.77563_77565del (TTN)	NP_597676.3:p.Lys25855del
NM_133437.4:c.77764_77766del (TTN)	NP_597681.4:p.Lys25922del
NR_038271.1:n.446+8594_446+8596del (TTN-AS1)
NR_038272.1:n.220-3502_220-3500del (TTN-AS1)
XM_011511729.1:c.103480_103482del (TTN)	XP_011510031.1:p.Lys34494del
XM_011511730.1:c.77374_77376del (TTN)	XP_011510032.1:p.Lys25792del
XM_011511731.1:c.77233_77235del (TTN)	XP_011510033.1:p.Lys25745del
XM_017004819.1:c.103276_103278del (TTN)	XP_016860308.1:p.Lys34426del
XM_017004820.1:c.98674_98676del (TTN)	XP_016860309.1:p.Lys32892del
XM_017004821.1:c.98671_98673del (TTN)	XP_016860310.1:p.Lys32891del
XM_017004822.1:c.95713_95715del (TTN)	XP_016860311.1:p.Lys31905del
XM_017004823.1:c.77329_77331del (TTN)	XP_016860312.1:p.Lys25777del
XM_024453094.1:c.98824_98826del (TTN)	XP_024308862.1:p.Lys32942del
XM_024453095.1:c.98821_98823del (TTN)	XP_024308863.1:p.Lys32941del
XM_024453096.1:c.98254_98256del (TTN)	XP_024308864.1:p.Lys32752del
XM_024453097.1:c.95596_95598del (TTN)	XP_024308865.1:p.Lys31866del
XM_024453098.1:c.95515_95517del (TTN)	XP_024308866.1:p.Lys31839del
XM_024453099.1:c.77278_77280del (TTN)	XP_024308867.1:p.Lys25760del
XM_024453100.1:c.67132_67134del (TTN)	XP_024308868.1:p.Lys22378del