Canonical Allele Identifier: CA1139664533

Gene: MYH11 NDE1

Linked Data

• ClinVar Variation Id: 928284
• ClinVar RCV Id: RCV001192060 ; RCV001863046
• dbSNP Id: rs2040634438

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15724284_15724285delinsCA , CM000678.2:g.15724284_15724285delinsCA	GRCh38
NC_000016.9:g.15818141_15818142delinsCA , CM000678.1:g.15818141_15818142delinsCA	GRCh37
NC_000016.8:g.15725642_15725643delinsCA	NCBI36
NG_009299.1:g.137746_137747delinsTG
NG_021210.1:g.86018_86019delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.4241_4242delinsTG (MYH11) MANE Select	ENSP00000300036.5:p.Ala1414Val
ENST00000396354.6:c.*33_*34delinsCA (NDE1) MANE Select	ENSP00000379642.1:n.*33_*34delinsCA
ENST00000452625.7:c.4262_4263delinsTG (MYH11) MANE Plus Clinical	ENSP00000407821.2:p.Ala1421Val
ENST00000576164.6:n.44_45delinsTG (MYH11)
ENST00000576790.7:c.4241_4242delinsTG (MYH11)	ENSP00000458731.1:p.Ala1414Val
ENST00000577101.6:c.1124_1125delinsCA (NDE1)	ENSP00000461729.2:p.Lys375Thr
ENST00000652121.1:c.*2424_*2425delinsTG (MYH11)	ENSP00000498314.1:n.*2424_*2425delinsTG
ENST00000674538.1:c.889_890delinsCA (NDE1)	ENSP00000501547.1:p.Ser297His
ENST00000674554.1:c.*33_*34delinsCA (NDE1)	ENSP00000502635.1:n.*33_*34delinsCA
ENST00000674581.1:c.*100_*101delinsCA (NDE1)	ENSP00000502100.1:n.*100_*101delinsCA
ENST00000674588.1:c.889_890delinsCA (NDE1)	ENSP00000502802.1:p.Ser297His
ENST00000674888.1:c.*33_*34delinsCA (NDE1)	ENSP00000501936.1:n.*33_*34delinsCA
ENST00000674900.1:c.*442_*443delinsCA (NDE1)	ENSP00000502662.1:n.*442_*443delinsCA
ENST00000674995.1:c.805_806delinsCA (NDE1)	ENSP00000502414.1:p.Ser269His
ENST00000675171.1:c.*793_*794delinsCA (NDE1)	ENSP00000501812.1:n.*793_*794delinsCA
ENST00000675926.1:c.*33_*34delinsCA (NDE1)	ENSP00000502354.1:n.*33_*34delinsCA
ENST00000675951.1:c.*33_*34delinsCA (NDE1)	ENSP00000502160.1:n.*33_*34delinsCA
ENST00000300036.5:c.4241_4242delinsTG (MYH11)	ENSP00000300036.5:p.Ala1414Val
ENST00000342673.9:c.*33_*34delinsCA (NDE1)	ENSP00000345892.5:n.*33_*34delinsCA
ENST00000396324.7:c.4262_4263delinsTG (MYH11)	ENSP00000379616.3:p.Ala1421Val
ENST00000396354.5:c.*33_*34delinsCA (NDE1)	ENSP00000379642.1:n.*33_*34delinsCA
ENST00000396355.5:c.*33_*34delinsCA (NDE1)	ENSP00000379643.1:n.*33_*34delinsCA
ENST00000452625.6:c.4262_4263delinsTG (MYH11)	ENSP00000407821.2:p.Ala1421Val
ENST00000571275.1:n.529_530delinsTG (MYH11)
ENST00000572503.1:n.278_279delinsCA (NDE1)
ENST00000576164.5:n.44_45delinsTG (MYH11)
ENST00000576790.6:c.4241_4242delinsTG (MYH11)	ENSP00000458731.1:p.Ala1414Val
ENST00000616439.4:c.4262_4263delinsTG (MYH11)	ENSP00000484924.1:p.Ala1421Val
NM_001040113.1:c.4262_4263delinsTG (MYH11)	NP_001035202.1:p.Ala1421Val
NM_001040114.1:c.4262_4263delinsTG (MYH11)	NP_001035203.1:p.Ala1421Val
NM_001143979.1:c.*33_*34delinsCA (NDE1)	NP_001137451.1:n.*33_*34delinsCA
NM_002474.2:c.4241_4242delinsTG (MYH11)	NP_002465.1:p.Ala1414Val
NM_017668.2:c.*33_*34delinsCA (NDE1)	NP_060138.1:n.*33_*34delinsCA
NM_022844.2:c.4241_4242delinsTG (MYH11)	NP_074035.1:p.Ala1414Val
XM_011522502.1:c.4241_4242delinsTG (MYH11)	XP_011520804.1:p.Ala1414Val
XM_011522502.2:c.4241_4242delinsTG (MYH11)	XP_011520804.1:p.Ala1414Val
XM_017023250.1:c.4262_4263delinsTG (MYH11)	XP_016878739.1:p.Ala1421Val
NM_002474.3:c.4241_4242delinsTG (MYH11) MANE Select	NP_002465.1:p.Ala1414Val
NM_017668.3:c.*33_*34delinsCA (NDE1) MANE Select	NP_060138.1:n.*33_*34delinsCA
NM_001040113.2:c.4262_4263delinsTG (MYH11) MANE Plus Clinical	NP_001035202.1:p.Ala1421Val
NM_001143979.2:c.*33_*34delinsCA (NDE1)	NP_001137451.1:n.*33_*34delinsCA
NM_001040114.2:c.4262_4263delinsTG (MYH11)	NP_001035203.1:p.Ala1421Val
NM_022844.3:c.4241_4242delinsTG (MYH11)	NP_074035.1:p.Ala1414Val