Canonical Allele Identifier: CA2335156638
Gene: ACTN4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38710194_38710209delinsAGTGAGTGACGCCTCC , CM000681.2:g.38710194_38710209delinsAGTGAGTGACGCCTCC GRCh38
NC_000019.9:g.39200834_39200849delinsAGTGAGTGACGCCTCC , CM000681.1:g.39200834_39200849delinsAGTGAGTGACGCCTCC GRCh37
NC_000019.8:g.43892674_43892689delinsAGTGAGTGACGCCTCC NCBI36
NG_007082.2:g.67508_67523delinsAGTGAGTGACGCCTCC

Transcript Alleles

HGVS Amino-acid change
ENST00000440400.3:c.733+718_733+733delinsAGTGAGTGACGCCTCC ENSP00000398393.2:n.733+718_733+733delins...
ENST00000697712.1:c.593-63_593-48delinsAGTGAGTGACGCCTCC ENSP00000513410.1:n.593-63_593-48delinsAG...
ENST00000252699.7:c.734-63_734-48delinsAGTGAGTGACGCCTCC MANE Select ENSP00000252699.2:n.734-63_734-48delinsAG...
ENST00000424234.7:c.733+718_733+733delinsAGTGAGTGACGCCTCC ENSP00000411187.4:n.733+718_733+733delins...
ENST00000440400.2:c.733+718_733+733delinsAGTGAGTGACGCCTCC ENSP00000398393.2:n.733+718_733+733delins...
ENST00000252699.6:c.734-63_734-48delinsAGTGAGTGACGCCTCC ENSP00000252699.2:n.734-63_734-48delinsAG...
ENST00000390009.7:c.163-4275_163-4260delinsAGTGAGTGACGCCTCC ENSP00000439497.1:n.163-4275_163-4260deli...
ENST00000424234.6:c.272+9485_272+9500delinsAGTGAGTGACGCCTCC ENSP00000411187.3:n.272+9485_272+9500deli...
ENST00000586538.1:c.136+718_136+733delinsAGTGAGTGACGCCTCC ENSP00000465176.1:n.136+718_136+733delins...
ENST00000588618.5:n.831-63_831-48delinsAGTGAGTGACGCCTCC
ENST00000589528.1:c.285+9480_285+9495delinsAGTGAGTGACGCCTCC
NM_004924.4:c.734-63_734-48delinsAGTGAGTGACGCCTCC NP_004915.2:n.734-63_734-48delinsAGTGAGTG...
XM_005259281.3:c.734-63_734-48delinsAGTGAGTGACGCCTCC XP_005259338.1:n.734-63_734-48delinsAGTGA...
XM_005259282.3:c.733+718_733+733delinsAGTGAGTGACGCCTCC XP_005259339.1:n.733+718_733+733delinsAGT...
XM_006723406.1:c.733+718_733+733delinsAGTGAGTGACGCCTCC XP_006723469.1:n.733+718_733+733delinsAGT...
NM_001322033.1:c.733+718_733+733delinsAGTGAGTGACGCCTCC NP_001308962.1:n.733+718_733+733delinsAGT...
NM_004924.5:c.734-63_734-48delinsAGTGAGTGACGCCTCC NP_004915.2:n.734-63_734-48delinsAGTGAGTG...
XM_005259281.5:c.734-63_734-48delinsAGTGAGTGACGCCTCC XP_005259338.1:n.734-63_734-48delinsAGTGA...
XM_006723406.3:c.733+718_733+733delinsAGTGAGTGACGCCTCC XP_006723469.1:n.733+718_733+733delinsAGT...
XM_017027331.2:c.734-63_734-48delinsAGTGAGTGACGCCTCC XP_016882820.1:n.734-63_734-48delinsAGTGA...
XR_001753937.1:n.123-8045_123-8030delinsGGAGGCGTCACTCACT
NM_004924.6:c.734-63_734-48delinsAGTGAGTGACGCCTCC MANE Select NP_004915.2:n.734-63_734-48delinsAGTGAGTG...
NM_001322033.2:c.733+718_733+733delinsAGTGAGTGACGCCTCC NP_001308962.1:n.733+718_733+733delinsAGT...