Canonical Allele Identifier: CA049121

Gene: TTN TTN-AS1

Linked Data

• PubMed: PMID:23975875

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.[178530597del;178569741_178569744del] , CM000664.2:g.[178530597del;178569741_178569744del]	GRCh38
NC_000002.11:g.[179395324del;179434468_179434471del] , CM000664.1:g.[179395324del;179434468_179434471del]	GRCh37
NC_000002.10:g.[179103570del;179142714_179142717del]	NCBI36
NG_011618.3:g.[266064_266067del;305207del] , LRG_391:g.[266064_266067del;305207del]
NG_051363.1:g.[12771del;51915_51918del]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.[68689_68692del;98315del] (TTN)	ENSP00000343764.6:p.Asn22897Ter
ENST00000342175.11:c.[49774_49777del;79400del] (TTN)	ENSP00000340554.6:p.Asn16592Ter
ENST00000359218.10:c.[49573_49576del;79199del] (TTN)	ENSP00000352154.5:p.Asn16525Ter
ENST00000342175.10:c.[49774_49777del;79400del] (TTN)	ENSP00000340554.6:p.Asn16592Ter
ENST00000342992.10:c.[68689_68692del;98315del] (TTN)	ENSP00000343764.6:p.Asn22897Ter
ENST00000359218.9:c.[49573_49576del;79199del] (TTN)	ENSP00000352154.5:p.Asn16525Ter
ENST00000460472.6:c.[49198_49201del;78824del] (TTN)	ENSP00000434586.1:p.Asn16400Ter
ENST00000589042.5:c.[76393_76396del;106019del] (TTN) MANE Select	ENSP00000467141.1:p.Asn25465Ter
ENST00000591111.5:c.[71470_71473del;101096del] (TTN)	ENSP00000465570.1:p.Asn23824Ter
ENST00000615779.4:c.[71470_71473del;101096del] (TTN)	ENSP00000483597.1:p.Asn23824Ter
NM_001256850.1:c.[71470_71473del;101096del] (TTN)	NP_001243779.1:p.Asn23824Ter
NM_001267550.2:c.[76393_76396del;106019del] (TTN) MANE Select	NP_001254479.2:p.Asn25465Ter
NM_003319.4:c.[49198_49201del;78824del] (TTN)	NP_003310.4:p.Asn16400Ter
NM_133378.4:c.[68689_68692del;98315del] (TTN)	NP_596869.4:p.Asn22897Ter
NM_133432.3:c.[49573_49576del;79199del] (TTN)	NP_597676.3:p.Asn16525Ter
NM_133437.4:c.[49774_49777del;79400del] (TTN)	NP_597681.4:p.Asn16592Ter
NR_038271.1:n.[446+6961del;447-1559_447-1556del] (TTN-AS1)
NR_038272.1:n.[220-5135del;2044-12831_2044-12828del] (TTN-AS1)
XM_011511729.1:c.[75490_75493del;105116del] (TTN)	XP_011510031.1:p.Asn25164Ter
XM_011511730.1:c.[49384_49387del;79010del] (TTN)	XP_011510032.1:p.Asn16462Ter
XM_011511731.1:c.[49243_49246del;78869del] (TTN)	XP_011510033.1:p.Asn16415Ter
XM_017004819.1:c.[75286_75289del;104912del] (TTN)	XP_016860308.1:p.Asn25096Ter
XM_017004820.1:c.[70684_70687del;100310del] (TTN)	XP_016860309.1:p.Asn23562Ter
XM_017004821.1:c.[70681_70684del;100307del] (TTN)	XP_016860310.1:p.Asn23561Ter
XM_017004822.1:c.[67723_67726del;97349del] (TTN)	XP_016860311.1:p.Asn22575Ter
XM_017004823.1:c.[49339_49342del;78965del] (TTN)	XP_016860312.1:p.Asn16447Ter
XM_024453094.1:c.[70834_70837del;100460del] (TTN)	XP_024308862.1:p.Asn23612Ter
XM_024453095.1:c.[70831_70834del;100457del] (TTN)	XP_024308863.1:p.Asn23611Ter
XM_024453096.1:c.[70264_70267del;99890del] (TTN)	XP_024308864.1:p.Asn23422Ter
XM_024453097.1:c.[67606_67609del;97232del] (TTN)	XP_024308865.1:p.Asn22536Ter
XM_024453098.1:c.[67525_67528del;97151del] (TTN)	XP_024308866.1:p.Asn22509Ter
XM_024453099.1:c.[49288_49291del;78914del] (TTN)	XP_024308867.1:p.Asn16430Ter
XM_024453100.1:c.[39142_39145del;68768del] (TTN)	XP_024308868.1:p.Asn13048Ter