Canonical Allele Identifier: CA1986426

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2952321
• ClinVar RCV Id: RCV003815472
• dbSNP Id: rs760489128
• ExAC: 2:179404703 AAGGT / A
• gnomAD v2: 2-179404703-AAGGT-A
• gnomAD v4: 2-178539976-AAGGT-A
• MyVariant Identifiers: chr2:g.179404704_179404707del (hg19) ; chr2:g.178539977_178539980del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178539980_178539983del , CM000664.2:g.178539980_178539983del	GRCh38
NC_000002.11:g.179404707_179404710del , CM000664.1:g.179404707_179404710del	GRCh37
NC_000002.10:g.179112953_179112956del	NCBI36
NG_011618.3:g.295823_295826del , LRG_391:g.295823_295826del
NG_051363.1:g.22154_22157del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.90395-14_90395-11del (TTN)	ENSP00000343764.6:n.90395-14_90395-11del
ENST00000342175.11:c.71480-14_71480-11del (TTN)	ENSP00000340554.6:n.71480-14_71480-11del
ENST00000359218.10:c.71279-14_71279-11del (TTN)	ENSP00000352154.5:n.71279-14_71279-11del
ENST00000342175.10:c.71480-14_71480-11del (TTN)	ENSP00000340554.6:n.71480-14_71480-11del
ENST00000342992.10:c.90395-14_90395-11del (TTN)	ENSP00000343764.6:n.90395-14_90395-11del
ENST00000359218.9:c.71279-14_71279-11del (TTN)	ENSP00000352154.5:n.71279-14_71279-11del
ENST00000460472.6:c.70904-14_70904-11del (TTN)	ENSP00000434586.1:n.70904-14_70904-11del
ENST00000589042.5:c.98099-14_98099-11del (TTN) MANE Select	ENSP00000467141.1:n.98099-14_98099-11del
ENST00000591111.5:c.93176-14_93176-11del (TTN)	ENSP00000465570.1:n.93176-14_93176-11del
ENST00000615779.4:c.93176-14_93176-11del (TTN)	ENSP00000483597.1:n.93176-14_93176-11del
NM_001256850.1:c.93176-14_93176-11del (TTN)	NP_001243779.1:n.93176-14_93176-11del
NM_001267550.2:c.98099-14_98099-11del (TTN) MANE Select	NP_001254479.2:n.98099-14_98099-11del
NM_003319.4:c.70904-14_70904-11del (TTN)	NP_003310.4:n.70904-14_70904-11del
NM_133378.4:c.90395-14_90395-11del (TTN)	NP_596869.4:n.90395-14_90395-11del
NM_133432.3:c.71279-14_71279-11del (TTN)	NP_597676.3:n.71279-14_71279-11del
NM_133437.4:c.71480-14_71480-11del (TTN)	NP_597681.4:n.71480-14_71480-11del
NR_038271.1:n.446+16344_446+16347del (TTN-AS1)
NR_038272.1:n.1840+90_1840+93del (TTN-AS1)
XM_011511729.1:c.97196-14_97196-11del (TTN)	XP_011510031.1:n.97196-14_97196-11del
XM_011511730.1:c.71090-14_71090-11del (TTN)	XP_011510032.1:n.71090-14_71090-11del
XM_011511731.1:c.70949-14_70949-11del (TTN)	XP_011510033.1:n.70949-14_70949-11del
XM_017004819.1:c.96992-14_96992-11del (TTN)	XP_016860308.1:n.96992-14_96992-11del
XM_017004820.1:c.92390-14_92390-11del (TTN)	XP_016860309.1:n.92390-14_92390-11del
XM_017004821.1:c.92387-14_92387-11del (TTN)	XP_016860310.1:n.92387-14_92387-11del
XM_017004822.1:c.89429-14_89429-11del (TTN)	XP_016860311.1:n.89429-14_89429-11del
XM_017004823.1:c.71045-14_71045-11del (TTN)	XP_016860312.1:n.71045-14_71045-11del
XM_024453094.1:c.92540-14_92540-11del (TTN)	XP_024308862.1:n.92540-14_92540-11del
XM_024453095.1:c.92537-14_92537-11del (TTN)	XP_024308863.1:n.92537-14_92537-11del
XM_024453096.1:c.91970-14_91970-11del (TTN)	XP_024308864.1:n.91970-14_91970-11del
XM_024453097.1:c.89312-14_89312-11del (TTN)	XP_024308865.1:n.89312-14_89312-11del
XM_024453098.1:c.89231-14_89231-11del (TTN)	XP_024308866.1:n.89231-14_89231-11del
XM_024453099.1:c.70994-14_70994-11del (TTN)	XP_024308867.1:n.70994-14_70994-11del
XM_024453100.1:c.60848-14_60848-11del (TTN)	XP_024308868.1:n.60848-14_60848-11del