Canonical Allele Identifier: CA2843184771

Gene: ACTN4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38710271dup , CM000681.2:g.38710271dup	GRCh38
NC_000019.9:g.39200911dup , CM000681.1:g.39200911dup	GRCh37
NC_000019.8:g.43892751dup	NCBI36
NG_007082.2:g.67585dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.733+795dup	ENSP00000398393.2:n.733+795dup
ENST00000697712.1:c.607dup	ENSP00000513410.1:p.Ala203GlyfsTer26
ENST00000252699.7:c.748dup MANE Select	ENSP00000252699.2:p.Ala250GlyfsTer26
ENST00000424234.7:c.733+795dup	ENSP00000411187.4:n.733+795dup
ENST00000440400.2:c.733+795dup	ENSP00000398393.2:n.733+795dup
ENST00000252699.6:c.748dup	ENSP00000252699.2:p.Ala250GlyfsTer26
ENST00000390009.7:c.163-4198dup	ENSP00000439497.1:n.163-4198dup
ENST00000424234.6:c.272+9562dup	ENSP00000411187.3:n.272+9562dup
ENST00000586538.1:c.136+795dup	ENSP00000465176.1:n.136+795dup
ENST00000588618.5:n.845dup
ENST00000589528.1:c.285+9557dup
NM_004924.4:c.748dup	NP_004915.2:p.Ala250GlyfsTer26
XM_005259281.3:c.748dup	XP_005259338.1:p.Ala250GlyfsTer26
XM_005259282.3:c.733+795dup	XP_005259339.1:n.733+795dup
XM_006723406.1:c.733+795dup	XP_006723469.1:n.733+795dup
NM_001322033.1:c.733+795dup	NP_001308962.1:n.733+795dup
NM_004924.5:c.748dup	NP_004915.2:p.Ala250GlyfsTer26
XM_005259281.5:c.748dup	XP_005259338.1:p.Ala250GlyfsTer26
XM_006723406.3:c.733+795dup	XP_006723469.1:n.733+795dup
XM_017027331.2:c.748dup	XP_016882820.1:p.Ala250GlyfsTer26
XR_001753937.1:n.123-8106dup
NM_004924.6:c.748dup MANE Select	NP_004915.2:p.Ala250GlyfsTer26
NM_001322033.2:c.733+795dup	NP_001308962.1:n.733+795dup