Canonical Allele Identifier: CA2335156622

Gene: ACTN4

Linked Data

• dbSNP Id: rs1968594730
• gnomAD v4: 19-38710164-AGGCCGTGGCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38710165_38710175del , CM000681.2:g.38710165_38710175del	GRCh38
NC_000019.9:g.39200805_39200815del , CM000681.1:g.39200805_39200815del	GRCh37
NC_000019.8:g.43892645_43892655del	NCBI36
NG_007082.2:g.67479_67489del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.733+689_733+699del	ENSP00000398393.2:n.733+689_733+699del
ENST00000697712.1:c.593-92_593-82del	ENSP00000513410.1:n.593-92_593-82del
ENST00000252699.7:c.734-92_734-82del MANE Select	ENSP00000252699.2:n.734-92_734-82del
ENST00000424234.7:c.733+689_733+699del	ENSP00000411187.4:n.733+689_733+699del
ENST00000440400.2:c.733+689_733+699del	ENSP00000398393.2:n.733+689_733+699del
ENST00000252699.6:c.734-92_734-82del	ENSP00000252699.2:n.734-92_734-82del
ENST00000390009.7:c.163-4304_163-4294del	ENSP00000439497.1:n.163-4304_163-4294del
ENST00000424234.6:c.272+9456_272+9466del	ENSP00000411187.3:n.272+9456_272+9466del
ENST00000586538.1:c.136+689_136+699del	ENSP00000465176.1:n.136+689_136+699del
ENST00000588618.5:n.831-92_831-82del
ENST00000589528.1:c.285+9451_285+9461del
NM_004924.4:c.734-92_734-82del	NP_004915.2:n.734-92_734-82del
XM_005259281.3:c.734-92_734-82del	XP_005259338.1:n.734-92_734-82del
XM_005259282.3:c.733+689_733+699del	XP_005259339.1:n.733+689_733+699del
XM_006723406.1:c.733+689_733+699del	XP_006723469.1:n.733+689_733+699del
NM_001322033.1:c.733+689_733+699del	NP_001308962.1:n.733+689_733+699del
NM_004924.5:c.734-92_734-82del	NP_004915.2:n.734-92_734-82del
XM_005259281.5:c.734-92_734-82del	XP_005259338.1:n.734-92_734-82del
XM_006723406.3:c.733+689_733+699del	XP_006723469.1:n.733+689_733+699del
XM_017027331.2:c.734-92_734-82del	XP_016882820.1:n.734-92_734-82del
XR_001753937.1:n.123-8011_123-8001del
NM_004924.6:c.734-92_734-82del MANE Select	NP_004915.2:n.734-92_734-82del
NM_001322033.2:c.733+689_733+699del	NP_001308962.1:n.733+689_733+699del