Canonical Allele Identifier: CA2806025578

Gene: MYH11

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15750264_15750265insCAAGAAGGGCGTCTTCTACAAGCAAGAAGGGCGTGTTCTTAATCGCTATTCGTAACATCTTGATTTCGTGTAGGTTATAAAAGTAATTGTAAGGTACGTTAAACGCTTATTTAGAGGATGTTTCT , CM000678.2:g.15750264_15750265insCAAGAAGGGCGTCTTCTACAAGCAAGAAGGGCGTGTTCTTAATCGCTATTCGTAACATCTTGATTTCGTGTAGGTTATAAAAGTAATTGTAAGGTACGTTAAACGCTTATTTAGAGGATGTTTCT	GRCh38
NC_000016.9:g.15844121_15844122insCAAGAAGGGCGTCTTCTACAAGCAAGAAGGGCGTGTTCTTAATCGCTATTCGTAACATCTTGATTTCGTGTAGGTTATAAAAGTAATTGTAAGGTACGTTAAACGCTTATTTAGAGGATGTTTCT , CM000678.1:g.15844121_15844122insCAAGAAGGGCGTCTTCTACAAGCAAGAAGGGCGTGTTCTTAATCGCTATTCGTAACATCTTGATTTCGTGTAGGTTATAAAAGTAATTGTAAGGTACGTTAAACGCTTATTTAGAGGATGTTTCT	GRCh37
NC_000016.8:g.15751622_15751623insCAAGAAGGGCGTCTTCTACAAGCAAGAAGGGCGTGTTCTTAATCGCTATTCGTAACATCTTGATTTCGTGTAGGTTATAAAAGTAATTGTAAGGTACGTTAAACGCTTATTTAGAGGATGTTTCT	NCBI36
NG_009299.1:g.111766_111767insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.1931_1932insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG MANE Select	ENSP00000300036.5:p.Thr645GlufsTer6
ENST00000452625.7:c.1952_1953insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG MANE Plus Clinical	ENSP00000407821.2:p.Thr652GlufsTer6
ENST00000576790.7:c.1931_1932insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG	ENSP00000458731.1:p.Thr645GlufsTer6
ENST00000652121.1:c.*114_*115insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG	ENSP00000498314.1:n.*114_*115insAGAAACATCCTCTAAATAAGCGTTTAACG...
ENST00000300036.5:c.1931_1932insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG	ENSP00000300036.5:p.Thr645GlufsTer6
ENST00000396324.7:c.1952_1953insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG	ENSP00000379616.3:p.Thr652GlufsTer6
ENST00000452625.6:c.1952_1953insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG	ENSP00000407821.2:p.Thr652GlufsTer6
ENST00000570785.1:n.2353_2354insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG
ENST00000576790.6:c.1931_1932insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG	ENSP00000458731.1:p.Thr645GlufsTer6
ENST00000616439.4:c.1952_1953insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG	ENSP00000484924.1:p.Thr652GlufsTer6
NM_001040113.1:c.1952_1953insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG	NP_001035202.1:p.Thr652GlufsTer6
NM_001040114.1:c.1952_1953insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG	NP_001035203.1:p.Thr652GlufsTer6
NM_002474.2:c.1931_1932insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG	NP_002465.1:p.Thr645GlufsTer6
NM_022844.2:c.1931_1932insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG	NP_074035.1:p.Thr645GlufsTer6
XM_011522502.1:c.1931_1932insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG	XP_011520804.1:p.Thr645GlufsTer6
XM_011522502.2:c.1931_1932insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG	XP_011520804.1:p.Thr645GlufsTer6
XM_017023250.1:c.1952_1953insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG	XP_016878739.1:p.Thr652GlufsTer6
NM_002474.3:c.1931_1932insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG MANE Select	NP_002465.1:p.Thr645GlufsTer6
NM_001040113.2:c.1952_1953insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG MANE Plus Clinical	NP_001035202.1:p.Thr652GlufsTer6
NM_001040114.2:c.1952_1953insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG	NP_001035203.1:p.Thr652GlufsTer6
NM_022844.3:c.1931_1932insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG	NP_074035.1:p.Thr645GlufsTer6