Canonical Allele Identifier: CA2584924099

Gene: ACTN4

Linked Data

• gnomAD v4: 19-38710158-CCCCCAAGGCCGTGGCCTTGGGAGCCCGTGGATCCCAGTGAGTGACGCCTCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38710163_38710214del , CM000681.2:g.38710163_38710214del	GRCh38
NC_000019.9:g.39200803_39200854del , CM000681.1:g.39200803_39200854del	GRCh37
NC_000019.8:g.43892643_43892694del	NCBI36
NG_007082.2:g.67477_67528del

Transcript Alleles

HGVS	Amino-acid change
ENST00000440400.3:c.733+687_733+738del	ENSP00000398393.2:n.733+687_733+738del
ENST00000697712.1:c.593-94_593-43del	ENSP00000513410.1:n.593-94_593-43del
ENST00000252699.7:c.734-94_734-43del MANE Select	ENSP00000252699.2:n.734-94_734-43del
ENST00000424234.7:c.733+687_733+738del	ENSP00000411187.4:n.733+687_733+738del
ENST00000440400.2:c.733+687_733+738del	ENSP00000398393.2:n.733+687_733+738del
ENST00000252699.6:c.734-94_734-43del	ENSP00000252699.2:n.734-94_734-43del
ENST00000390009.7:c.163-4306_163-4255del	ENSP00000439497.1:n.163-4306_163-4255del
ENST00000424234.6:c.272+9454_272+9505del	ENSP00000411187.3:n.272+9454_272+9505del
ENST00000586538.1:c.136+687_136+738del	ENSP00000465176.1:n.136+687_136+738del
ENST00000588618.5:n.831-94_831-43del
ENST00000589528.1:c.285+9449_285+9500del
NM_004924.4:c.734-94_734-43del	NP_004915.2:n.734-94_734-43del
XM_005259281.3:c.734-94_734-43del	XP_005259338.1:n.734-94_734-43del
XM_005259282.3:c.733+687_733+738del	XP_005259339.1:n.733+687_733+738del
XM_006723406.1:c.733+687_733+738del	XP_006723469.1:n.733+687_733+738del
NM_001322033.1:c.733+687_733+738del	NP_001308962.1:n.733+687_733+738del
NM_004924.5:c.734-94_734-43del	NP_004915.2:n.734-94_734-43del
XM_005259281.5:c.734-94_734-43del	XP_005259338.1:n.734-94_734-43del
XM_006723406.3:c.733+687_733+738del	XP_006723469.1:n.733+687_733+738del
XM_017027331.2:c.734-94_734-43del	XP_016882820.1:n.734-94_734-43del
XR_001753937.1:n.123-8046_123-7995del
NM_004924.6:c.734-94_734-43del MANE Select	NP_004915.2:n.734-94_734-43del
NM_001322033.2:c.733+687_733+738del	NP_001308962.1:n.733+687_733+738del