Canonical Allele Identifier: CA775643985

Gene: ACTG1

Linked Data

• dbSNP Id: rs1287600431
• gnomAD v3: 17-81511621-CAT-C
• gnomAD v4: 17-81511621-CAT-C
• MyVariant Identifiers: chr17:g.81511622_81511623del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511623_81511624del , CM000679.2:g.81511623_81511624del	GRCh38
NC_000017.10:g.79478649_79478650del , CM000679.1:g.79478649_79478650del	GRCh37
NC_000017.9:g.77093244_77093245del	NCBI36
NG_011433.1:g.6179_6180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.367_368del	ENSP00000466346.2:p.Met123ValfsTer2
ENST00000571691.6:c.340-45_340-44del	ENSP00000461407.2:n.340-45_340-44del
ENST00000571721.6:c.367_368del	ENSP00000460660.2:p.Met123ValfsTer2
ENST00000572105.7:c.408_409del	ENSP00000462823.1:p.Cys137PhefsTer?
ENST00000573283.7:c.367_368del MANE Select	ENSP00000458435.1:p.Met123ValfsTer2
ENST00000574671.6:n.767_768del
ENST00000575659.6:c.367_368del	ENSP00000459119.2:p.Met123ValfsTer2
ENST00000575994.6:c.367_368del	ENSP00000460464.2:p.Met123ValfsTer2
ENST00000576214.3:n.668_669del
ENST00000576544.6:c.367_368del	ENSP00000461672.1:p.Met123ValfsTer2
ENST00000615544.5:c.367_368del	ENSP00000477968.1:p.Met123ValfsTer2
ENST00000644774.2:c.340_341del	ENSP00000493648.2:p.Met114ValfsTer2
ENST00000679410.1:n.491_492del
ENST00000679480.1:c.367_368del	ENSP00000506201.1:p.Met123ValfsTer2
ENST00000679535.1:n.668_669del
ENST00000679778.1:c.367_368del	ENSP00000505235.1:p.Met123ValfsTer2
ENST00000680227.1:c.367_368del	ENSP00000506253.1:p.Met123ValfsTer2
ENST00000680727.1:c.367_368del	ENSP00000505193.1:p.Met123ValfsTer2
ENST00000681052.1:c.367_368del	ENSP00000505060.1:p.Met123ValfsTer2
ENST00000681092.1:c.*171_*172del	ENSP00000506720.1:n.*171_*172del
ENST00000681842.1:c.367_368del	ENSP00000506126.1:p.Met123ValfsTer2
ENST00000331925.6:c.367_368del	ENSP00000331514.2:p.Met123ValfsTer2
ENST00000570382.1:c.340-45_340-44del	ENSP00000466346.1:n.340-45_340-44del
ENST00000571691.5:c.340_341del	ENSP00000461407.1:p.Met114ValfsTer2
ENST00000571721.5:c.367_368del	ENSP00000460660.1:p.Met123ValfsTer2
ENST00000572105.6:c.408_409del	ENSP00000462823.1:p.Cys137PhefsTer?
ENST00000573283.5:c.367_368del	ENSP00000458435.1:p.Met123ValfsTer2
ENST00000574671.5:n.226_227del
ENST00000575087.5:c.367_368del	ENSP00000459124.1:p.Met123ValfsTer2
ENST00000575659.5:c.367_368del	ENSP00000459119.1:p.Met123ValfsTer2
ENST00000575842.5:c.367_368del	ENSP00000458162.1:p.Met123ValfsTer2
ENST00000575994.5:c.367_368del	ENSP00000460464.1:p.Met123ValfsTer2
ENST00000576209.5:n.252_253del
ENST00000576214.2:n.565_566del
ENST00000576544.5:c.367_368del	ENSP00000461672.1:p.Met123ValfsTer2
ENST00000576917.5:n.420_421del
ENST00000615544.4:c.367_368del	ENSP00000477968.1:p.Met123ValfsTer2
NM_001199954.1:c.367_368del	NP_001186883.1:p.Met123ValfsTer2
NM_001614.3:c.367_368del	NP_001605.1:p.Met123ValfsTer2
NR_037688.1:n.506_507del
NM_001199954.2:c.367_368del	NP_001186883.1:p.Met123ValfsTer2
NM_001614.4:c.367_368del	NP_001605.1:p.Met123ValfsTer2
NR_037688.2:n.439_440del
NM_001614.5:c.367_368del MANE Select	NP_001605.1:p.Met123ValfsTer2
NR_037688.3:n.439_440del
NM_001199954.3:c.367_368del	NP_001186883.1:p.Met123ValfsTer2