Canonical Allele Identifier: CA2584924086

Gene: ACTN4

Linked Data

• gnomAD v4: 19-38710141-ACTCTGCAGGTCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38710146_38710157del , CM000681.2:g.38710146_38710157del	GRCh38
NC_000019.9:g.39200786_39200797del , CM000681.1:g.39200786_39200797del	GRCh37
NC_000019.8:g.43892626_43892637del	NCBI36
NG_007082.2:g.67460_67471del

Transcript Alleles

HGVS	Amino-acid change
ENST00000440400.3:c.733+670_733+681del	ENSP00000398393.2:n.733+670_733+681del
ENST00000697712.1:c.593-111_593-100del	ENSP00000513410.1:n.593-111_593-100del
ENST00000252699.7:c.734-111_734-100del MANE Select	ENSP00000252699.2:n.734-111_734-100del
ENST00000424234.7:c.733+670_733+681del	ENSP00000411187.4:n.733+670_733+681del
ENST00000440400.2:c.733+670_733+681del	ENSP00000398393.2:n.733+670_733+681del
ENST00000252699.6:c.734-111_734-100del	ENSP00000252699.2:n.734-111_734-100del
ENST00000390009.7:c.163-4323_163-4312del	ENSP00000439497.1:n.163-4323_163-4312del
ENST00000424234.6:c.272+9437_272+9448del	ENSP00000411187.3:n.272+9437_272+9448del
ENST00000586538.1:c.136+670_136+681del	ENSP00000465176.1:n.136+670_136+681del
ENST00000588618.5:n.831-111_831-100del
ENST00000589528.1:c.285+9432_285+9443del
NM_004924.4:c.734-111_734-100del	NP_004915.2:n.734-111_734-100del
XM_005259281.3:c.734-111_734-100del	XP_005259338.1:n.734-111_734-100del
XM_005259282.3:c.733+670_733+681del	XP_005259339.1:n.733+670_733+681del
XM_006723406.1:c.733+670_733+681del	XP_006723469.1:n.733+670_733+681del
NM_001322033.1:c.733+670_733+681del	NP_001308962.1:n.733+670_733+681del
NM_004924.5:c.734-111_734-100del	NP_004915.2:n.734-111_734-100del
XM_005259281.5:c.734-111_734-100del	XP_005259338.1:n.734-111_734-100del
XM_006723406.3:c.733+670_733+681del	XP_006723469.1:n.733+670_733+681del
XM_017027331.2:c.734-111_734-100del	XP_016882820.1:n.734-111_734-100del
XR_001753937.1:n.123-7989_123-7978del
NM_004924.6:c.734-111_734-100del MANE Select	NP_004915.2:n.734-111_734-100del
NM_001322033.2:c.733+670_733+681del	NP_001308962.1:n.733+670_733+681del