Canonical Allele Identifier: CA2640435313

Gene: ACTG1

Linked Data

• dbSNP Id: rs2031783747
• gnomAD v4: 17-81511632-A-ATCTTCTCTCTGTTGGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511632_81511633insTCTTCTCTCTGTTGGCCT , CM000679.2:g.81511632_81511633insTCTTCTCTCTGTTGGCCT	GRCh38
NC_000017.10:g.79478658_79478659insTCTTCTCTCTGTTGGCCT , CM000679.1:g.79478658_79478659insTCTTCTCTCTGTTGGCCT	GRCh37
NC_000017.9:g.77093253_77093254insTCTTCTCTCTGTTGGCCT	NCBI36
NG_011433.1:g.6169_6170insAGGCCAACAGAGAGAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000466346.2:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000571691.6:c.340-55_340-54insAGGCCAACAGAGAGAAGA	ENSP00000461407.2:n.340-55_340-54insAGGCCAACAGAGAGAAGA
ENST00000571721.6:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000460660.2:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000572105.7:c.405-7_405-6insAGGCCAACAGAGAGAAGA	ENSP00000462823.1:n.405-7_405-6insAGGCCAACAGAGAGAAGA
ENST00000573283.7:c.364-7_364-6insAGGCCAACAGAGAGAAGA MANE Select	ENSP00000458435.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000574671.6:n.757_758insAGGCCAACAGAGAGAAGA
ENST00000575659.6:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000459119.2:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000575994.6:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000460464.2:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000576214.3:n.658_659insAGGCCAACAGAGAGAAGA
ENST00000576544.6:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000461672.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000615544.5:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000477968.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000644774.2:c.337-7_337-6insAGGCCAACAGAGAGAAGA	ENSP00000493648.2:n.337-7_337-6insAGGCCAACAGAGAGAAGA
ENST00000679410.1:n.488-7_488-6insAGGCCAACAGAGAGAAGA
ENST00000679480.1:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000506201.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000679535.1:n.658_659insAGGCCAACAGAGAGAAGA
ENST00000679778.1:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000505235.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000680227.1:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000506253.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000680727.1:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000505193.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000681052.1:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000505060.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000681092.1:c.*168-7_*168-6insAGGCCAACAGAGAGAAGA	ENSP00000506720.1:n.*168-7_*168-6insAGGCCAACAGAGAGAAGA
ENST00000681842.1:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000506126.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000331925.6:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000331514.2:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000570382.1:c.340-55_340-54insAGGCCAACAGAGAGAAGA	ENSP00000466346.1:n.340-55_340-54insAGGCCAACAGAGAGAAGA
ENST00000571691.5:c.337-7_337-6insAGGCCAACAGAGAGAAGA	ENSP00000461407.1:n.337-7_337-6insAGGCCAACAGAGAGAAGA
ENST00000571721.5:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000460660.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000572105.6:c.405-7_405-6insAGGCCAACAGAGAGAAGA	ENSP00000462823.1:n.405-7_405-6insAGGCCAACAGAGAGAAGA
ENST00000573283.5:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000458435.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000574671.5:n.216_217insAGGCCAACAGAGAGAAGA
ENST00000575087.5:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000459124.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000575659.5:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000459119.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000575842.5:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000458162.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000575994.5:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000460464.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000576209.5:n.249-7_249-6insAGGCCAACAGAGAGAAGA
ENST00000576214.2:n.555_556insAGGCCAACAGAGAGAAGA
ENST00000576544.5:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000461672.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
ENST00000576917.5:n.417-7_417-6insAGGCCAACAGAGAGAAGA
ENST00000615544.4:c.364-7_364-6insAGGCCAACAGAGAGAAGA	ENSP00000477968.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
NM_001199954.1:c.364-7_364-6insAGGCCAACAGAGAGAAGA	NP_001186883.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
NM_001614.3:c.364-7_364-6insAGGCCAACAGAGAGAAGA	NP_001605.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
NR_037688.1:n.503-7_503-6insAGGCCAACAGAGAGAAGA
NM_001199954.2:c.364-7_364-6insAGGCCAACAGAGAGAAGA	NP_001186883.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
NM_001614.4:c.364-7_364-6insAGGCCAACAGAGAGAAGA	NP_001605.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
NR_037688.2:n.436-7_436-6insAGGCCAACAGAGAGAAGA
NM_001614.5:c.364-7_364-6insAGGCCAACAGAGAGAAGA MANE Select	NP_001605.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA
NR_037688.3:n.436-7_436-6insAGGCCAACAGAGAGAAGA
NM_001199954.3:c.364-7_364-6insAGGCCAACAGAGAGAAGA	NP_001186883.1:n.364-7_364-6insAGGCCAACAGAGAGAAGA