Canonical Allele Identifier: CA891863044

Gene: ACTN4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38728008_38728009delinsTA , CM000681.2:g.38728008_38728009delinsTA	GRCh38
NC_000019.9:g.39218648_39218649delinsTA , CM000681.1:g.39218648_39218649delinsTA	GRCh37
NC_000019.8:g.43910488_43910489delinsTA	NCBI36
NG_007082.2:g.85322_85323delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.2338-308_2338-307delinsTA	ENSP00000398393.2:n.2338-308_2338-307delinsTA
ENST00000697712.1:c.2259_2260delinsTA	ENSP00000513410.1:p.Val754Met
ENST00000252699.7:c.2400_2401delinsTA MANE Select	ENSP00000252699.2:p.Val801Met
ENST00000424234.7:c.2400_2401delinsTA	ENSP00000411187.4:p.Val801Met
ENST00000440400.2:c.2338-308_2338-307delinsTA	ENSP00000398393.2:n.2338-308_2338-307delinsTA
ENST00000252699.6:c.2400_2401delinsTA	ENSP00000252699.2:p.Val801Met
ENST00000390009.7:c.1743_1744delinsTA	ENSP00000439497.1:p.Val582Met
ENST00000424234.6:c.1230_1231delinsTA	ENSP00000411187.3:p.Val411Met
ENST00000440400.1:c.646-308_646-307delinsTA	ENSP00000398393.1:n.646-308_646-307delinsTA
ENST00000497637.5:n.153_154delinsTA
ENST00000589528.1:c.286-1981_286-1980delinsTA
NM_004924.4:c.2400_2401delinsTA	NP_004915.2:p.Val801Met
XM_005259281.3:c.2338-308_2338-307delinsTA	XP_005259338.1:n.2338-308_2338-307delinsTA
XM_005259282.3:c.2338-308_2338-307delinsTA	XP_005259339.1:n.2338-308_2338-307delinsTA
XM_006723406.1:c.2400_2401delinsTA	XP_006723469.1:p.Val801Met
NM_001322033.1:c.2338-308_2338-307delinsTA	NP_001308962.1:n.2338-308_2338-307delinsTA
NM_004924.5:c.2400_2401delinsTA	NP_004915.2:p.Val801Met
XM_005259281.5:c.2338-308_2338-307delinsTA	XP_005259338.1:n.2338-308_2338-307delinsTA
XM_006723406.3:c.2400_2401delinsTA	XP_006723469.1:p.Val801Met
XM_017027331.2:c.2400_2401delinsTA	XP_016882820.1:p.Val801Met
XR_001753937.1:n.122+179_122+180delinsTA
NM_004924.6:c.2400_2401delinsTA MANE Select	NP_004915.2:p.Val801Met
NM_001322033.2:c.2338-308_2338-307delinsTA	NP_001308962.1:n.2338-308_2338-307delinsTA