Canonical Allele Identifier: CA632878909

Gene: ACTN4

Linked Data

• dbSNP Id: rs1568729508
• gnomAD v2: 19-39200879-CTTG-C
• gnomAD v4: 19-38710239-CTTG-C
• MyVariant Identifiers: chr19:g.39200880_39200882del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38710245_38710247del , CM000681.2:g.38710245_38710247del	GRCh38
NC_000019.9:g.39200885_39200887del , CM000681.1:g.39200885_39200887del	GRCh37
NC_000019.8:g.43892725_43892727del	NCBI36
NG_007082.2:g.67559_67561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.733+769_733+771del	ENSP00000398393.2:n.733+769_733+771del
ENST00000697712.1:c.593-12_593-10del	ENSP00000513410.1:n.593-12_593-10del
ENST00000252699.7:c.734-12_734-10del MANE Select	ENSP00000252699.2:n.734-12_734-10del
ENST00000424234.7:c.733+769_733+771del	ENSP00000411187.4:n.733+769_733+771del
ENST00000440400.2:c.733+769_733+771del	ENSP00000398393.2:n.733+769_733+771del
ENST00000252699.6:c.734-12_734-10del	ENSP00000252699.2:n.734-12_734-10del
ENST00000390009.7:c.163-4224_163-4222del	ENSP00000439497.1:n.163-4224_163-4222del
ENST00000424234.6:c.272+9536_272+9538del	ENSP00000411187.3:n.272+9536_272+9538del
ENST00000586538.1:c.136+769_136+771del	ENSP00000465176.1:n.136+769_136+771del
ENST00000588618.5:n.831-12_831-10del
ENST00000589528.1:c.285+9531_285+9533del
NM_004924.4:c.734-12_734-10del	NP_004915.2:n.734-12_734-10del
XM_005259281.3:c.734-12_734-10del	XP_005259338.1:n.734-12_734-10del
XM_005259282.3:c.733+769_733+771del	XP_005259339.1:n.733+769_733+771del
XM_006723406.1:c.733+769_733+771del	XP_006723469.1:n.733+769_733+771del
NM_001322033.1:c.733+769_733+771del	NP_001308962.1:n.733+769_733+771del
NM_004924.5:c.734-12_734-10del	NP_004915.2:n.734-12_734-10del
XM_005259281.5:c.734-12_734-10del	XP_005259338.1:n.734-12_734-10del
XM_006723406.3:c.733+769_733+771del	XP_006723469.1:n.733+769_733+771del
XM_017027331.2:c.734-12_734-10del	XP_016882820.1:n.734-12_734-10del
XR_001753937.1:n.123-8078_123-8076del
NM_004924.6:c.734-12_734-10del MANE Select	NP_004915.2:n.734-12_734-10del
NM_001322033.2:c.733+769_733+771del	NP_001308962.1:n.733+769_733+771del