Canonical Allele Identifier: CA769055784

Gene: THADA

Linked Data

• dbSNP Id: rs1454488347
• gnomAD v3: 2-43494324-T-TCA
• gnomAD v4: 2-43494324-T-TCA
• MyVariant Identifiers: chr2:g.43721463_43721464insCA (hg19) ; chr2:g.43494324_43494325insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43494326_43494327dup , CM000664.2:g.43494326_43494327dup	GRCh38
NC_000002.11:g.43721465_43721466dup , CM000664.1:g.43721465_43721466dup	GRCh37
NC_000002.10:g.43574969_43574970dup	NCBI36
NG_051580.1:g.106721_106722dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405975.7:c.3744+4507_3744+4508dup MANE Select	ENSP00000386088.2:n.3744+4507_3744+4508dup
ENST00000398653.5:c.*2842+4507_*2842+4508dup	ENSP00000381647.1:n.*2842+4507_*2842+4508dup
ENST00000402796.5:c.2282+4507_2282+4508dup	ENSP00000385003.1:n.2282+4507_2282+4508dup
ENST00000405006.8:c.3744+4507_3744+4508dup	ENSP00000385995.4:n.3744+4507_3744+4508dup
ENST00000405975.6:c.3744+4507_3744+4508dup	ENSP00000386088.2:n.3744+4507_3744+4508dup
ENST00000407351.5:c.1685+4507_1685+4508dup
ENST00000408045.7:c.*2839+4507_*2839+4508dup	ENSP00000384172.2:n.*2839+4507_*2839+4508dup
ENST00000436947.1:n.343+4507_343+4508dup
NM_001083953.1:c.3744+4507_3744+4508dup	NP_001077422.1:n.3744+4507_3744+4508dup
NM_022065.4:c.3744+4507_3744+4508dup	NP_071348.3:n.3744+4507_3744+4508dup
NR_073394.1:n.3876+4507_3876+4508dup
XM_006712061.2:c.3744+4507_3744+4508dup	XP_006712124.1:n.3744+4507_3744+4508dup
XM_006712062.1:c.3741+4507_3741+4508dup	XP_006712125.1:n.3741+4507_3741+4508dup
XM_006712063.1:c.3624+4507_3624+4508dup	XP_006712126.1:n.3624+4507_3624+4508dup
XM_006712064.1:c.3744+4507_3744+4508dup	XP_006712127.1:n.3744+4507_3744+4508dup
XM_006712065.1:c.3744+4507_3744+4508dup	XP_006712128.1:n.3744+4507_3744+4508dup
XM_006712066.1:c.3381+4507_3381+4508dup	XP_006712129.1:n.3381+4507_3381+4508dup
XM_006712067.1:c.3378+4507_3378+4508dup	XP_006712130.1:n.3378+4507_3378+4508dup
XM_006712068.2:c.3744+4507_3744+4508dup	XP_006712131.1:n.3744+4507_3744+4508dup
XM_006712069.2:c.1293+4507_1293+4508dup	XP_006712132.1:n.1293+4507_1293+4508dup
XM_011533015.1:c.3744+4507_3744+4508dup	XP_011531317.1:n.3744+4507_3744+4508dup
XM_011533016.1:c.1056+4507_1056+4508dup	XP_011531318.1:n.1056+4507_1056+4508dup
NM_001345923.1:c.3741+4507_3741+4508dup	NP_001332852.1:n.3741+4507_3741+4508dup
NM_001345924.1:c.3621+4507_3621+4508dup	NP_001332853.1:n.3621+4507_3621+4508dup
NM_001345925.1:c.3744+4507_3744+4508dup	NP_001332854.1:n.3744+4507_3744+4508dup
NR_144316.1:n.3884+4507_3884+4508dup
XM_006712064.2:c.3744+4507_3744+4508dup	XP_006712127.1:n.3744+4507_3744+4508dup
XM_006712068.3:c.3744+4507_3744+4508dup	XP_006712131.1:n.3744+4507_3744+4508dup
XM_006712069.3:c.1293+4507_1293+4508dup	XP_006712132.1:n.1293+4507_1293+4508dup
XM_011533015.3:c.3744+4507_3744+4508dup	XP_011531317.1:n.3744+4507_3744+4508dup
XM_017004675.1:c.1056+4507_1056+4508dup	XP_016860164.1:n.1056+4507_1056+4508dup
NM_001083953.2:c.3744+4507_3744+4508dup	NP_001077422.1:n.3744+4507_3744+4508dup
NM_001345923.2:c.3741+4507_3741+4508dup	NP_001332852.1:n.3741+4507_3741+4508dup
NM_001345924.2:c.3621+4507_3621+4508dup	NP_001332853.1:n.3621+4507_3621+4508dup
NM_001345925.2:c.3744+4507_3744+4508dup	NP_001332854.1:n.3744+4507_3744+4508dup
NM_022065.5:c.3744+4507_3744+4508dup MANE Select	NP_071348.3:n.3744+4507_3744+4508dup
NR_073394.2:n.3868+4507_3868+4508dup
NR_144316.2:n.3876+4507_3876+4508dup