Canonical Allele Identifier: CA572822087

Gene: ACTB

Linked Data

• gnomAD v2: 7-5568354-T-TCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAG
• MyVariant Identifiers: chr7:g.5568354_5568355insCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAG (hg19) ; chr7:g.5528723_5528724insCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528723_5528724insCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAG , CM000669.2:g.5528723_5528724insCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAG	GRCh38
NC_000007.13:g.5568354_5568355insCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAG , CM000669.1:g.5568354_5568355insCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAG	GRCh37
NC_000007.12:g.5534880_5534881insCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAG	NCBI36
NG_007992.1:g.6878_6879insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG , LRG_132:g.6878_6879insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432588.6:c.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	ENSP00000407473.2:n.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGA...
ENST00000473257.3:c.235-5_235-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	ENSP00000501773.1:n.235-5_235-4insCTACAATGAGCTGCGTGTGGCTCCCGA...
ENST00000477812.2:n.906_907insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG
ENST00000484841.6:n.559-5_559-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG
ENST00000493945.6:c.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	ENSP00000494269.1:n.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGA...
ENST00000642480.2:c.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	ENSP00000495995.2:n.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGA...
ENST00000645576.1:c.364-53_364-52insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	ENSP00000496101.1:n.364-53_364-52insCTACAATGAGCTGCGTGTGGCTCCC...
ENST00000646664.1:c.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG MANE Select	ENSP00000494750.1:n.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGA...
ENST00000647275.1:c.-3-5_-3-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	ENSP00000494185.1:n.-3-5_-3-4insCTACAATGAGCTGCGTGTGGCTCCCGAGG...
ENST00000674681.1:c.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	ENSP00000502821.1:n.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGA...
ENST00000675515.1:c.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	ENSP00000501862.1:n.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGA...
ENST00000676189.1:c.375-17_375-16insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	ENSP00000502538.1:n.375-17_375-16insCTACAATGAGCTGCGTGTGGCTCCC...
ENST00000676319.1:c.87+847_87+848insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	ENSP00000502193.1:n.87+847_87+848insCTACAATGAGCTGCGTGTGGCTCCC...
ENST00000676397.1:c.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	ENSP00000502286.1:n.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGA...
ENST00000331789.9:c.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	ENSP00000349960.4:n.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGA...
ENST00000425660.5:c.*27-5_*27-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	ENSP00000409264.1:n.*27-5_*27-4insCTACAATGAGCTGCGTGTGGCTCCCGA...
ENST00000432588.5:c.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	ENSP00000407473.1:n.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGA...
ENST00000462494.5:n.884_885insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG
ENST00000473257.1:n.82-5_82-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG
ENST00000477812.1:n.571-5_571-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG
ENST00000484841.5:n.519-5_519-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG
ENST00000493945.5:n.370-5_370-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG
NM_001101.3:c.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG , LRG_132t1:c.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	NP_001092.1:n.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCA...
XM_006715764.1:c.-8_-7insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	XP_006715827.1:n.-8_-7insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCC...
NM_001101.4:c.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG	NP_001092.1:n.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCA...
NM_001101.5:c.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATG MANE Select	NP_001092.1:n.364-5_364-4insCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCA...