Canonical Allele Identifier: CA761291359

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1317804909
• gnomAD v4: 2-178598447-TAAC-T
• MyVariant Identifiers: chr2:g.179463175_179463177del (hg19) ; chr2:g.178598448_178598450del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178598448_178598450del , CM000664.2:g.178598448_178598450del	GRCh38
NC_000002.11:g.179463175_179463177del , CM000664.1:g.179463175_179463177del	GRCh37
NC_000002.10:g.179171420_179171422del	NCBI36
NG_011618.3:g.237353_237355del , LRG_391:g.237353_237355del
NG_051363.1:g.80622_80624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.49407+56_49407+58del (TTN)	ENSP00000343764.6:n.49407+56_49407+58del
ENST00000342175.11:c.30492+56_30492+58del (TTN)	ENSP00000340554.6:n.30492+56_30492+58del
ENST00000359218.10:c.30291+56_30291+58del (TTN)	ENSP00000352154.5:n.30291+56_30291+58del
ENST00000342175.10:c.30492+56_30492+58del (TTN)	ENSP00000340554.6:n.30492+56_30492+58del
ENST00000342992.10:c.49407+56_49407+58del (TTN)	ENSP00000343764.6:n.49407+56_49407+58del
ENST00000359218.9:c.30291+56_30291+58del (TTN)	ENSP00000352154.5:n.30291+56_30291+58del
ENST00000460472.6:c.29916+56_29916+58del (TTN)	ENSP00000434586.1:n.29916+56_29916+58del
ENST00000589042.5:c.57111+56_57111+58del (TTN) MANE Select	ENSP00000467141.1:n.57111+56_57111+58del
ENST00000591111.5:c.52188+56_52188+58del (TTN)	ENSP00000465570.1:n.52188+56_52188+58del
ENST00000615779.4:c.52188+56_52188+58del (TTN)	ENSP00000483597.1:n.52188+56_52188+58del
NM_001256850.1:c.52188+56_52188+58del (TTN)	NP_001243779.1:n.52188+56_52188+58del
NM_001267550.2:c.57111+56_57111+58del (TTN) MANE Select	NP_001254479.2:n.57111+56_57111+58del
NM_003319.4:c.29916+56_29916+58del (TTN)	NP_003310.4:n.29916+56_29916+58del
NM_133378.4:c.49407+56_49407+58del (TTN)	NP_596869.4:n.49407+56_49407+58del
NM_133432.3:c.30291+56_30291+58del (TTN)	NP_597676.3:n.30291+56_30291+58del
NM_133437.4:c.30492+56_30492+58del (TTN)	NP_597681.4:n.30492+56_30492+58del
NR_038271.1:n.682+767_682+769del (TTN-AS1)
NR_038272.1:n.3451-108_3451-106del (TTN-AS1)
XM_011511729.1:c.56208+56_56208+58del (TTN)	XP_011510031.1:n.56208+56_56208+58del
XM_011511730.1:c.30102+56_30102+58del (TTN)	XP_011510032.1:n.30102+56_30102+58del
XM_011511731.1:c.29961+56_29961+58del (TTN)	XP_011510033.1:n.29961+56_29961+58del
XM_017004819.1:c.56004+56_56004+58del (TTN)	XP_016860308.1:n.56004+56_56004+58del
XM_017004820.1:c.51402+56_51402+58del (TTN)	XP_016860309.1:n.51402+56_51402+58del
XM_017004821.1:c.51399+56_51399+58del (TTN)	XP_016860310.1:n.51399+56_51399+58del
XM_017004822.1:c.48441+56_48441+58del (TTN)	XP_016860311.1:n.48441+56_48441+58del
XM_017004823.1:c.30057+56_30057+58del (TTN)	XP_016860312.1:n.30057+56_30057+58del
XM_024453094.1:c.51552+56_51552+58del (TTN)	XP_024308862.1:n.51552+56_51552+58del
XM_024453095.1:c.51549+56_51549+58del (TTN)	XP_024308863.1:n.51549+56_51549+58del
XM_024453096.1:c.50982+56_50982+58del (TTN)	XP_024308864.1:n.50982+56_50982+58del
XM_024453097.1:c.48324+56_48324+58del (TTN)	XP_024308865.1:n.48324+56_48324+58del
XM_024453098.1:c.48243+56_48243+58del (TTN)	XP_024308866.1:n.48243+56_48243+58del
XM_024453099.1:c.30006+56_30006+58del (TTN)	XP_024308867.1:n.30006+56_30006+58del
XM_024453100.1:c.19860+56_19860+58del (TTN)	XP_024308868.1:n.19860+56_19860+58del