Canonical Allele Identifier: CA2814352237

Gene: ACTN4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38708175_38708178del , CM000681.2:g.38708175_38708178del	GRCh38
NC_000019.9:g.39198815_39198818del , CM000681.1:g.39198815_39198818del	GRCh37
NC_000019.8:g.43890655_43890658del	NCBI36
NG_007082.2:g.65489_65492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.631_634del	ENSP00000398393.2:p.Glu211MetfsTer4
ENST00000697712.1:c.490_493del	ENSP00000513410.1:p.Glu164MetfsTer4
ENST00000252699.7:c.631_634del MANE Select	ENSP00000252699.2:p.Glu211MetfsTer4
ENST00000424234.7:c.631_634del	ENSP00000411187.4:p.Glu211MetfsTer4
ENST00000440400.2:c.631_634del	ENSP00000398393.2:p.Glu211MetfsTer4
ENST00000252699.6:c.631_634del	ENSP00000252699.2:p.Glu211MetfsTer4
ENST00000390009.7:c.163-6294_163-6291del	ENSP00000439497.1:n.163-6294_163-6291del
ENST00000424234.6:c.272+7466_272+7469del	ENSP00000411187.3:n.272+7466_272+7469del
ENST00000495553.1:n.537_540del
ENST00000586538.1:c.34_37del	ENSP00000465176.1:p.Glu12MetfsTer4
ENST00000588618.5:n.728_731del
ENST00000589528.1:c.285+7461_285+7464del
NM_004924.4:c.631_634del	NP_004915.2:p.Glu211MetfsTer4
XM_005259281.3:c.631_634del	XP_005259338.1:p.Glu211MetfsTer4
XM_005259282.3:c.631_634del	XP_005259339.1:p.Glu211MetfsTer4
XM_006723406.1:c.631_634del	XP_006723469.1:p.Glu211MetfsTer4
NM_001322033.1:c.631_634del	NP_001308962.1:p.Glu211MetfsTer4
NM_004924.5:c.631_634del	NP_004915.2:p.Glu211MetfsTer4
XM_005259281.5:c.631_634del	XP_005259338.1:p.Glu211MetfsTer4
XM_006723406.3:c.631_634del	XP_006723469.1:p.Glu211MetfsTer4
XM_017027331.2:c.631_634del	XP_016882820.1:p.Glu211MetfsTer4
XR_001753937.1:n.123-6013_123-6010del
NM_004924.6:c.631_634del MANE Select	NP_004915.2:p.Glu211MetfsTer4
NM_001322033.2:c.631_634del	NP_001308962.1:p.Glu211MetfsTer4