Canonical Allele Identifier: CA4147067

Gene: ACTB

Linked Data

• dbSNP Id: rs748819558
• ExAC: 7:5568709 G / GA
• gnomAD v2: 7-5568709-G-GA
• gnomAD v3: 7-5529078-G-GA
• gnomAD v4: 7-5529078-G-GA
• MyVariant Identifiers: chr7:g.5568709_5568710insA (hg19) ; chr7:g.5529078_5529079insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5529079dup , CM000669.2:g.5529079dup	GRCh38
NC_000007.13:g.5568710dup , CM000669.1:g.5568710dup	GRCh37
NC_000007.12:g.5535236dup	NCBI36
NG_007992.1:g.6523dup , LRG_132:g.6523dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000432588.6:c.363+82dup	ENSP00000407473.2:n.363+82dup
ENST00000473257.3:c.234+82dup	ENSP00000501773.1:n.234+82dup
ENST00000477812.2:n.571-20dup
ENST00000484841.6:n.518-20dup
ENST00000493945.6:c.363+82dup	ENSP00000494269.1:n.363+82dup
ENST00000642480.2:c.363+82dup	ENSP00000495995.2:n.363+82dup
ENST00000645025.1:n.447-20dup
ENST00000645576.1:c.363+82dup	ENSP00000496101.1:n.363+82dup
ENST00000646664.1:c.363+82dup MANE Select	ENSP00000494750.1:n.363+82dup
ENST00000647275.1:c.-3-360dup	ENSP00000494185.1:n.-3-360dup
ENST00000674681.1:c.363+82dup	ENSP00000502821.1:n.363+82dup
ENST00000675515.1:c.363+82dup	ENSP00000501862.1:n.363+82dup
ENST00000676189.1:c.374+71dup	ENSP00000502538.1:n.374+71dup
ENST00000676319.1:c.87+492dup	ENSP00000502193.1:n.87+492dup
ENST00000676397.1:c.363+82dup	ENSP00000502286.1:n.363+82dup
ENST00000331789.9:c.363+82dup	ENSP00000349960.4:n.363+82dup
ENST00000425660.5:c.364-20dup	ENSP00000409264.1:n.364-20dup
ENST00000432588.5:c.363+82dup	ENSP00000407473.1:n.363+82dup
ENST00000462494.5:n.529dup
ENST00000473257.1:n.82-360dup
ENST00000477812.1:n.570+82dup
ENST00000480301.1:n.645dup
ENST00000484841.5:n.518+82dup
ENST00000493945.5:n.369+82dup
NM_001101.3:c.363+82dup , LRG_132t1:c.363+82dup	NP_001092.1:n.363+82dup
XM_006715764.1:c.-343-20dup	XP_006715827.1:n.-343-20dup
NM_001101.4:c.363+82dup	NP_001092.1:n.363+82dup
NM_001101.5:c.363+82dup MANE Select	NP_001092.1:n.363+82dup