Canonical Allele Identifier: CA308132919

Gene: ACTN4

Linked Data

• dbSNP Id: rs962680957
• gnomAD v3: 19-38710168-C-CGT
• gnomAD v4: 19-38710168-C-CGT
• MyVariant Identifiers: chr19:g.39200808_39200809insGT (hg19) ; chr19:g.38710168_38710169insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38710170_38710171dup , CM000681.2:g.38710170_38710171dup	GRCh38
NC_000019.9:g.39200810_39200811dup , CM000681.1:g.39200810_39200811dup	GRCh37
NC_000019.8:g.43892650_43892651dup	NCBI36
NG_007082.2:g.67484_67485dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.733+694_733+695dup	ENSP00000398393.2:n.733+694_733+695dup
ENST00000697712.1:c.593-87_593-86dup	ENSP00000513410.1:n.593-87_593-86dup
ENST00000252699.7:c.734-87_734-86dup MANE Select	ENSP00000252699.2:n.734-87_734-86dup
ENST00000424234.7:c.733+694_733+695dup	ENSP00000411187.4:n.733+694_733+695dup
ENST00000440400.2:c.733+694_733+695dup	ENSP00000398393.2:n.733+694_733+695dup
ENST00000252699.6:c.734-87_734-86dup	ENSP00000252699.2:n.734-87_734-86dup
ENST00000390009.7:c.163-4299_163-4298dup	ENSP00000439497.1:n.163-4299_163-4298dup
ENST00000424234.6:c.272+9461_272+9462dup	ENSP00000411187.3:n.272+9461_272+9462dup
ENST00000586538.1:c.136+694_136+695dup	ENSP00000465176.1:n.136+694_136+695dup
ENST00000588618.5:n.831-87_831-86dup
ENST00000589528.1:c.285+9456_285+9457dup
NM_004924.4:c.734-87_734-86dup	NP_004915.2:n.734-87_734-86dup
XM_005259281.3:c.734-87_734-86dup	XP_005259338.1:n.734-87_734-86dup
XM_005259282.3:c.733+694_733+695dup	XP_005259339.1:n.733+694_733+695dup
XM_006723406.1:c.733+694_733+695dup	XP_006723469.1:n.733+694_733+695dup
NM_001322033.1:c.733+694_733+695dup	NP_001308962.1:n.733+694_733+695dup
NM_004924.5:c.734-87_734-86dup	NP_004915.2:n.734-87_734-86dup
XM_005259281.5:c.734-87_734-86dup	XP_005259338.1:n.734-87_734-86dup
XM_006723406.3:c.733+694_733+695dup	XP_006723469.1:n.733+694_733+695dup
XM_017027331.2:c.734-87_734-86dup	XP_016882820.1:n.734-87_734-86dup
XR_001753937.1:n.123-8006_123-8005dup
NM_004924.6:c.734-87_734-86dup MANE Select	NP_004915.2:n.734-87_734-86dup
NM_001322033.2:c.733+694_733+695dup	NP_001308962.1:n.733+694_733+695dup