Canonical Allele Identifier: CA16042577

Gene: ACTB

Linked Data

• ClinVar Variation Id: 373015
• ClinVar RCV Id: RCV000413032
• dbSNP Id: rs1057518142
• MyVariant Identifiers: chr7:g.5567402_5567415dupTGGAGGGGCCGGAC (hg19) ; chr7:g.5567401_5567402insTGGAGGGGCCGGAC (hg19) ; chr7:g.5527771_5527784dupTGGAGGGGCCGGAC (hg38) ; chr7:g.5527770_5527771insTGGAGGGGCCGGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5527772_5527785dup , CM000669.2:g.5527772_5527785dup	GRCh38
NC_000007.13:g.5567403_5567416dup , CM000669.1:g.5567403_5567416dup	GRCh37
NC_000007.12:g.5533929_5533942dup	NCBI36
NG_007992.1:g.7818_7831dup , LRG_132:g.7818_7831dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473257.3:c.963_976dup	ENSP00000501773.1:p.Ile326SerfsTer18
ENST00000477812.2:n.1639_1652dup
ENST00000493945.6:c.1092_1105dup	ENSP00000494269.1:p.Ile369SerfsTer18
ENST00000642480.2:c.1092_1105dup	ENSP00000495995.2:p.Ile369SerfsTer18
ENST00000646664.1:c.1092_1105dup MANE Select	ENSP00000494750.1:p.Ile369SerfsTer18
ENST00000674681.1:c.1092_1105dup	ENSP00000502821.1:p.Ile369SerfsTer18
ENST00000675515.1:c.1092_1105dup	ENSP00000501862.1:p.Ile369SerfsTer18
ENST00000676189.1:c.*635_*648dup	ENSP00000502538.1:n.*635_*648dup
ENST00000676319.1:c.88-1_100dup
ENST00000676397.1:c.*98_*111dup	ENSP00000502286.1:n.*98_*111dup
ENST00000331789.9:c.1092_1105dup	ENSP00000349960.4:p.Ile369SerfsTer18
ENST00000425660.5:c.*755_*768dup	ENSP00000409264.1:n.*755_*768dup
ENST00000462494.5:n.1617_1630dup
ENST00000464611.1:n.203_216dup
ENST00000493945.5:n.1193_1206dup
NM_001101.3:c.1092_1105dup , LRG_132t1:c.1092_1105dup	NP_001092.1:p.Ile369SerfsTer18
XM_006715764.1:c.726_739dup	XP_006715827.1:p.Ile247SerfsTer18
NM_001101.4:c.1092_1105dup	NP_001092.1:p.Ile369SerfsTer18
NM_001101.5:c.1092_1105dup MANE Select	NP_001092.1:p.Ile369SerfsTer18