Canonical Allele Identifier: CA1143384274

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762726_236762729delinsGGGG , CM000663.2:g.236762726_236762729delinsGGGG	GRCh38
NC_000001.10:g.236926026_236926029delinsGGGG , CM000663.1:g.236926026_236926029delinsGGGG	GRCh37
NC_000001.9:g.234992649_234992652delinsGGGG	NCBI36
NG_009081.1:g.81257_81260delinsGGGG
NG_009081.2:g.103586_103589delinsGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*107_*110delinsGGGG	ENSP00000443495.1:n.*107_*110delinsGGGG
ENST00000461367.2:n.1088_1091delinsGGGG
ENST00000492634.7:n.2722_2725delinsGGGG
ENST00000682015.1:c.*107_*110delinsGGGG	ENSP00000506961.1:n.*107_*110delinsGGGG
ENST00000682490.1:n.710_713delinsGGGG
ENST00000682692.1:n.3887_3890delinsGGGG
ENST00000682966.1:n.8433_8436delinsGGGG
ENST00000683111.1:c.*2078_*2081delinsGGGG	ENSP00000507913.1:n.*2078_*2081delinsGGGG
ENST00000683322.1:n.4144_4147delinsGGGG
ENST00000683805.1:n.1583_1586delinsGGGG
ENST00000684050.1:n.5430_5433delinsGGGG
ENST00000684122.1:n.2226_2229delinsGGGG
ENST00000684286.1:n.4347_4350delinsGGGG
ENST00000684502.1:n.4089_4092delinsGGGG
ENST00000684763.1:n.1407_1410delinsGGGG
ENST00000366578.6:c.*107_*110delinsGGGG MANE Select	ENSP00000355537.4:n.*107_*110delinsGGGG
ENST00000492634.6:n.2722_2725delinsGGGG
ENST00000542672.6:c.*107_*110delinsGGGG	ENSP00000443495.1:n.*107_*110delinsGGGG
ENST00000651275.1:c.2684_2687delinsGGGG	ENSP00000498926.1:n.2684_2687delinsGGGG
ENST00000651781.1:c.1872_1875delinsGGGG
ENST00000652096.1:c.*2197_*2200delinsGGGG	ENSP00000498896.1:n.*2197_*2200delinsGGGG
ENST00000366578.5:c.*107_*110delinsGGGG	ENSP00000355537.4:n.*107_*110delinsGGGG
ENST00000542672.5:c.*107_*110delinsGGGG	ENSP00000443495.1:n.*107_*110delinsGGGG
ENST00000546208.5:c.*107_*110delinsGGGG	ENSP00000438384.2:n.*107_*110delinsGGGG
NM_001103.3:c.*107_*110delinsGGGG	NP_001094.1:n.*107_*110delinsGGGG
NM_001278343.1:c.*107_*110delinsGGGG	NP_001265272.1:n.*107_*110delinsGGGG
NM_001278344.1:c.*107_*110delinsGGGG	NP_001265273.1:n.*107_*110delinsGGGG
NM_001278343.2:c.*107_*110delinsGGGG	NP_001265272.1:n.*107_*110delinsGGGG
NM_001103.4:c.*107_*110delinsGGGG MANE Select	NP_001094.1:n.*107_*110delinsGGGG
NM_001278344.2:c.*107_*110delinsGGGG	NP_001265273.1:n.*107_*110delinsGGGG