Canonical Allele Identifier: CA632878648

Gene: ACTN4

Linked Data

• dbSNP Id: rs1168676892
• gnomAD v2: 19-39198673-TCACTGCTGTGGGTG-T
• gnomAD v3: 19-38708033-TCACTGCTGTGGGTG-T
• gnomAD v4: 19-38708033-TCACTGCTGTGGGTG-T
• MyVariant Identifiers: chr19:g.39198674_39198687del (hg19) ; chr19:g.38708034_38708047del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38708037_38708050del , CM000681.2:g.38708037_38708050del	GRCh38
NC_000019.9:g.39198677_39198690del , CM000681.1:g.39198677_39198690del	GRCh37
NC_000019.8:g.43890517_43890530del	NCBI36
NG_007082.2:g.65351_65364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.573-80_573-67del	ENSP00000398393.2:n.573-80_573-67del
ENST00000697712.1:c.432-80_432-67del	ENSP00000513410.1:n.432-80_432-67del
ENST00000252699.7:c.573-80_573-67del MANE Select	ENSP00000252699.2:n.573-80_573-67del
ENST00000424234.7:c.573-80_573-67del	ENSP00000411187.4:n.573-80_573-67del
ENST00000440400.2:c.573-80_573-67del	ENSP00000398393.2:n.573-80_573-67del
ENST00000252699.6:c.573-80_573-67del	ENSP00000252699.2:n.573-80_573-67del
ENST00000390009.7:c.163-6432_163-6419del	ENSP00000439497.1:n.163-6432_163-6419del
ENST00000424234.6:c.272+7328_272+7341del	ENSP00000411187.3:n.272+7328_272+7341del
ENST00000495553.1:n.479-80_479-67del
ENST00000588618.5:n.670-80_670-67del
ENST00000589528.1:c.285+7323_285+7336del
NM_004924.4:c.573-80_573-67del	NP_004915.2:n.573-80_573-67del
XM_005259281.3:c.573-80_573-67del	XP_005259338.1:n.573-80_573-67del
XM_005259282.3:c.573-80_573-67del	XP_005259339.1:n.573-80_573-67del
XM_006723406.1:c.573-80_573-67del	XP_006723469.1:n.573-80_573-67del
NM_001322033.1:c.573-80_573-67del	NP_001308962.1:n.573-80_573-67del
NM_004924.5:c.573-80_573-67del	NP_004915.2:n.573-80_573-67del
XM_005259281.5:c.573-80_573-67del	XP_005259338.1:n.573-80_573-67del
XM_006723406.3:c.573-80_573-67del	XP_006723469.1:n.573-80_573-67del
XM_017027331.2:c.573-80_573-67del	XP_016882820.1:n.573-80_573-67del
XR_001753937.1:n.123-5883_123-5870del
NM_004924.6:c.573-80_573-67del MANE Select	NP_004915.2:n.573-80_573-67del
NM_001322033.2:c.573-80_573-67del	NP_001308962.1:n.573-80_573-67del