Canonical Allele Identifier: CA9417327

Gene: ACTN4

Linked Data

• dbSNP Id: rs766961963
• ExAC: 19:39198839 AGT / A
• gnomAD v2: 19-39198839-AGT-A
• gnomAD v4: 19-38708199-AGT-A
• MyVariant Identifiers: chr19:g.39198840_39198841del (hg19) ; chr19:g.38708200_38708201del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38708202_38708203del , CM000681.2:g.38708202_38708203del	GRCh38
NC_000019.9:g.39198842_39198843del , CM000681.1:g.39198842_39198843del	GRCh37
NC_000019.8:g.43890682_43890683del	NCBI36
NG_007082.2:g.65516_65517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.651+7_651+8del	ENSP00000398393.2:n.651+7_651+8del
ENST00000697712.1:c.510+7_510+8del	ENSP00000513410.1:n.510+7_510+8del
ENST00000252699.7:c.651+7_651+8del MANE Select	ENSP00000252699.2:n.651+7_651+8del
ENST00000424234.7:c.651+7_651+8del	ENSP00000411187.4:n.651+7_651+8del
ENST00000440400.2:c.651+7_651+8del	ENSP00000398393.2:n.651+7_651+8del
ENST00000252699.6:c.651+7_651+8del	ENSP00000252699.2:n.651+7_651+8del
ENST00000390009.7:c.163-6267_163-6266del	ENSP00000439497.1:n.163-6267_163-6266del
ENST00000424234.6:c.272+7493_272+7494del	ENSP00000411187.3:n.272+7493_272+7494del
ENST00000495553.1:n.557+7_557+8del
ENST00000586538.1:c.54+7_54+8del	ENSP00000465176.1:n.54+7_54+8del
ENST00000588618.5:n.748+7_748+8del
ENST00000589528.1:c.285+7488_285+7489del
NM_004924.4:c.651+7_651+8del	NP_004915.2:n.651+7_651+8del
XM_005259281.3:c.651+7_651+8del	XP_005259338.1:n.651+7_651+8del
XM_005259282.3:c.651+7_651+8del	XP_005259339.1:n.651+7_651+8del
XM_006723406.1:c.651+7_651+8del	XP_006723469.1:n.651+7_651+8del
NM_001322033.1:c.651+7_651+8del	NP_001308962.1:n.651+7_651+8del
NM_004924.5:c.651+7_651+8del	NP_004915.2:n.651+7_651+8del
XM_005259281.5:c.651+7_651+8del	XP_005259338.1:n.651+7_651+8del
XM_006723406.3:c.651+7_651+8del	XP_006723469.1:n.651+7_651+8del
XM_017027331.2:c.651+7_651+8del	XP_016882820.1:n.651+7_651+8del
XR_001753937.1:n.123-6037_123-6036del
NM_004924.6:c.651+7_651+8del MANE Select	NP_004915.2:n.651+7_651+8del
NM_001322033.2:c.651+7_651+8del	NP_001308962.1:n.651+7_651+8del