Canonical Allele Identifier: CA2584923762

Gene: ACTN4

Linked Data

• gnomAD v4: 19-38708247-C-CGGAGTTAGGGGGTCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38708247_38708248insGGAGTTAGGGGGTCAGA , CM000681.2:g.38708247_38708248insGGAGTTAGGGGGTCAGA	GRCh38
NC_000019.9:g.39198887_39198888insGGAGTTAGGGGGTCAGA , CM000681.1:g.39198887_39198888insGGAGTTAGGGGGTCAGA	GRCh37
NC_000019.8:g.43890727_43890728insGGAGTTAGGGGGTCAGA	NCBI36
NG_007082.2:g.65561_65562insGGAGTTAGGGGGTCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.651+52_651+53insGGAGTTAGGGGGTCAGA	ENSP00000398393.2:n.651+52_651+53insGGAGTTAGGGGGTCAGA
ENST00000697712.1:c.510+52_510+53insGGAGTTAGGGGGTCAGA	ENSP00000513410.1:n.510+52_510+53insGGAGTTAGGGGGTCAGA
ENST00000252699.7:c.651+52_651+53insGGAGTTAGGGGGTCAGA MANE Select	ENSP00000252699.2:n.651+52_651+53insGGAGTTAGGGGGTCAGA
ENST00000424234.7:c.651+52_651+53insGGAGTTAGGGGGTCAGA	ENSP00000411187.4:n.651+52_651+53insGGAGTTAGGGGGTCAGA
ENST00000440400.2:c.651+52_651+53insGGAGTTAGGGGGTCAGA	ENSP00000398393.2:n.651+52_651+53insGGAGTTAGGGGGTCAGA
ENST00000252699.6:c.651+52_651+53insGGAGTTAGGGGGTCAGA	ENSP00000252699.2:n.651+52_651+53insGGAGTTAGGGGGTCAGA
ENST00000390009.7:c.163-6222_163-6221insGGAGTTAGGGGGTCAGA	ENSP00000439497.1:n.163-6222_163-6221insGGAGTTAGGGGGTCAGA
ENST00000424234.6:c.272+7538_272+7539insGGAGTTAGGGGGTCAGA	ENSP00000411187.3:n.272+7538_272+7539insGGAGTTAGGGGGTCAGA
ENST00000495553.1:n.557+52_557+53insGGAGTTAGGGGGTCAGA
ENST00000586538.1:c.54+52_54+53insGGAGTTAGGGGGTCAGA	ENSP00000465176.1:n.54+52_54+53insGGAGTTAGGGGGTCAGA
ENST00000588618.5:n.748+52_748+53insGGAGTTAGGGGGTCAGA
ENST00000589528.1:c.285+7533_285+7534insGGAGTTAGGGGGTCAGA
NM_004924.4:c.651+52_651+53insGGAGTTAGGGGGTCAGA	NP_004915.2:n.651+52_651+53insGGAGTTAGGGGGTCAGA
XM_005259281.3:c.651+52_651+53insGGAGTTAGGGGGTCAGA	XP_005259338.1:n.651+52_651+53insGGAGTTAGGGGGTCAGA
XM_005259282.3:c.651+52_651+53insGGAGTTAGGGGGTCAGA	XP_005259339.1:n.651+52_651+53insGGAGTTAGGGGGTCAGA
XM_006723406.1:c.651+52_651+53insGGAGTTAGGGGGTCAGA	XP_006723469.1:n.651+52_651+53insGGAGTTAGGGGGTCAGA
NM_001322033.1:c.651+52_651+53insGGAGTTAGGGGGTCAGA	NP_001308962.1:n.651+52_651+53insGGAGTTAGGGGGTCAGA
NM_004924.5:c.651+52_651+53insGGAGTTAGGGGGTCAGA	NP_004915.2:n.651+52_651+53insGGAGTTAGGGGGTCAGA
XM_005259281.5:c.651+52_651+53insGGAGTTAGGGGGTCAGA	XP_005259338.1:n.651+52_651+53insGGAGTTAGGGGGTCAGA
XM_006723406.3:c.651+52_651+53insGGAGTTAGGGGGTCAGA	XP_006723469.1:n.651+52_651+53insGGAGTTAGGGGGTCAGA
XM_017027331.2:c.651+52_651+53insGGAGTTAGGGGGTCAGA	XP_016882820.1:n.651+52_651+53insGGAGTTAGGGGGTCAGA
XR_001753937.1:n.123-6084_123-6083insTCTGACCCCCTAACTCC
NM_004924.6:c.651+52_651+53insGGAGTTAGGGGGTCAGA MANE Select	NP_004915.2:n.651+52_651+53insGGAGTTAGGGGGTCAGA
NM_001322033.2:c.651+52_651+53insGGAGTTAGGGGGTCAGA	NP_001308962.1:n.651+52_651+53insGGAGTTAGGGGGTCAGA