Canonical Allele Identifier: CA4147150

Gene: ACTB

Linked Data

• ClinVar Variation Id: 1568962
• ClinVar RCV Id: RCV002213168
• dbSNP Id: rs768341964
• ExAC: 7:5569047 CAAG / C
• gnomAD v2: 7-5569047-CAAG-C
• gnomAD v4: 7-5529416-CAAG-C
• MyVariant Identifiers: chr7:g.5569048_5569050del (hg19) ; chr7:g.5529417_5529419del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5529420_5529422del , CM000669.2:g.5529420_5529422del	GRCh38
NC_000007.13:g.5569051_5569053del , CM000669.1:g.5569051_5569053del	GRCh37
NC_000007.12:g.5535577_5535579del	NCBI36
NG_007992.1:g.6183_6185del , LRG_132:g.6183_6185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417101.2:c.124-19_124-17del	ENSP00000399487.2:n.124-19_124-17del
ENST00000432588.6:c.124-19_124-17del	ENSP00000407473.2:n.124-19_124-17del
ENST00000473257.3:c.-6-19_-6-17del	ENSP00000501773.1:n.-6-19_-6-17del
ENST00000477812.2:n.312_314del
ENST00000484841.6:n.278-19_278-17del
ENST00000493945.6:c.124-19_124-17del	ENSP00000494269.1:n.124-19_124-17del
ENST00000642480.2:c.124-19_124-17del	ENSP00000495995.2:n.124-19_124-17del
ENST00000645025.1:n.207-19_207-17del
ENST00000645576.1:c.124-19_124-17del	ENSP00000496101.1:n.124-19_124-17del
ENST00000646664.1:c.124-19_124-17del MANE Select	ENSP00000494750.1:n.124-19_124-17del
ENST00000647275.1:c.-3-700_-3-698del	ENSP00000494185.1:n.-3-700_-3-698del
ENST00000674681.1:c.124-19_124-17del	ENSP00000502821.1:n.124-19_124-17del
ENST00000675515.1:c.124-19_124-17del	ENSP00000501862.1:n.124-19_124-17del
ENST00000676189.1:c.124-19_124-17del	ENSP00000502538.1:n.124-19_124-17del
ENST00000676319.1:c.87+152_87+154del	ENSP00000502193.1:n.87+152_87+154del
ENST00000676397.1:c.124-19_124-17del	ENSP00000502286.1:n.124-19_124-17del
ENST00000331789.9:c.124-19_124-17del	ENSP00000349960.4:n.124-19_124-17del
ENST00000414620.1:c.124-19_124-17del	ENSP00000401032.1:n.124-19_124-17del
ENST00000417101.1:c.133-19_133-17del	ENSP00000399487.1:n.133-19_133-17del
ENST00000425660.5:c.124-19_124-17del	ENSP00000409264.1:n.124-19_124-17del
ENST00000432588.5:c.124-19_124-17del	ENSP00000407473.1:n.124-19_124-17del
ENST00000443528.5:c.124-19_124-17del	ENSP00000393951.1:n.124-19_124-17del
ENST00000462494.5:n.208-19_208-17del
ENST00000473257.1:n.82-700_82-698del
ENST00000477812.1:n.312_314del
ENST00000480301.1:n.305_307del
ENST00000484841.5:n.279-19_279-17del
ENST00000493945.5:n.130-19_130-17del
NM_001101.3:c.124-19_124-17del , LRG_132t1:c.124-19_124-17del	NP_001092.1:n.124-19_124-17del
NM_001101.4:c.124-19_124-17del	NP_001092.1:n.124-19_124-17del
NM_001101.5:c.124-19_124-17del MANE Select	NP_001092.1:n.124-19_124-17del