Canonical Allele Identifier: CA2584923767

Gene: ACTN4

Linked Data

• gnomAD v4: 19-38708266-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38708270del , CM000681.2:g.38708270del	GRCh38
NC_000019.9:g.39198910del , CM000681.1:g.39198910del	GRCh37
NC_000019.8:g.43890750del	NCBI36
NG_007082.2:g.65584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.651+75del	ENSP00000398393.2:n.651+75del
ENST00000697712.1:c.510+75del	ENSP00000513410.1:n.510+75del
ENST00000252699.7:c.651+75del MANE Select	ENSP00000252699.2:n.651+75del
ENST00000424234.7:c.651+75del	ENSP00000411187.4:n.651+75del
ENST00000440400.2:c.651+75del	ENSP00000398393.2:n.651+75del
ENST00000252699.6:c.651+75del	ENSP00000252699.2:n.651+75del
ENST00000390009.7:c.163-6199del	ENSP00000439497.1:n.163-6199del
ENST00000424234.6:c.272+7561del	ENSP00000411187.3:n.272+7561del
ENST00000495553.1:n.557+75del
ENST00000586538.1:c.54+75del	ENSP00000465176.1:n.54+75del
ENST00000588618.5:n.748+75del
ENST00000589528.1:c.285+7556del
NM_004924.4:c.651+75del	NP_004915.2:n.651+75del
XM_005259281.3:c.651+75del	XP_005259338.1:n.651+75del
XM_005259282.3:c.651+75del	XP_005259339.1:n.651+75del
XM_006723406.1:c.651+75del	XP_006723469.1:n.651+75del
NM_001322033.1:c.651+75del	NP_001308962.1:n.651+75del
NM_004924.5:c.651+75del	NP_004915.2:n.651+75del
XM_005259281.5:c.651+75del	XP_005259338.1:n.651+75del
XM_006723406.3:c.651+75del	XP_006723469.1:n.651+75del
XM_017027331.2:c.651+75del	XP_016882820.1:n.651+75del
XR_001753937.1:n.123-6103del
NM_004924.6:c.651+75del MANE Select	NP_004915.2:n.651+75del
NM_001322033.2:c.651+75del	NP_001308962.1:n.651+75del