Canonical Allele Identifier: CA2697555671

Gene: MYH11 NDE1

Linked Data

• ClinVar Variation Id: 2773784
• ClinVar RCV Id: RCV003528099

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15715034_15715046del , CM000678.2:g.15715034_15715046del	GRCh38
NC_000016.9:g.15808891_15808903del , CM000678.1:g.15808891_15808903del	GRCh37
NC_000016.8:g.15716392_15716404del	NCBI36
NG_009299.1:g.146992_147004del
NG_021210.1:g.76768_76780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.5656_5668del (MYH11) MANE Select	ENSP00000300036.5:p.Leu1886ArgfsTer?
ENST00000396354.6:c.948-9157_948-9145del (NDE1) MANE Select	ENSP00000379642.1:n.948-9157_948-9145del
ENST00000452625.7:c.5677_5689del (MYH11) MANE Plus Clinical	ENSP00000407821.2:p.Leu1893ArgfsTer?
ENST00000572756.6:c.796-9157_796-9145del (NDE1)	ENSP00000460436.2:n.796-9157_796-9145del
ENST00000576164.6:n.3576_3588del (MYH11)
ENST00000576790.7:c.5656_5668del (MYH11)	ENSP00000458731.1:p.Leu1886ArgfsTer?
ENST00000577101.6:c.1031-9157_1031-9145del (NDE1)	ENSP00000461729.2:n.1031-9157_1031-9145del
ENST00000652121.1:c.*3839_*3851del (MYH11)	ENSP00000498314.1:n.*3839_*3851del
ENST00000674538.1:c.796-9157_796-9145del (NDE1)	ENSP00000501547.1:n.796-9157_796-9145del
ENST00000674554.1:c.948-9157_948-9145del (NDE1)	ENSP00000502635.1:n.948-9157_948-9145del
ENST00000674581.1:c.*7-9157_*7-9145del (NDE1)	ENSP00000502100.1:n.*7-9157_*7-9145del
ENST00000674588.1:c.796-9157_796-9145del (NDE1)	ENSP00000502802.1:n.796-9157_796-9145del
ENST00000674888.1:c.948-9157_948-9145del (NDE1)	ENSP00000501936.1:n.948-9157_948-9145del
ENST00000674900.1:c.*349-9157_*349-9145del (NDE1)	ENSP00000502662.1:n.*349-9157_*349-9145del
ENST00000674995.1:c.796-9241_796-9229del (NDE1)	ENSP00000502414.1:n.796-9241_796-9229del
ENST00000675171.1:c.*700-9157_*700-9145del (NDE1)	ENSP00000501812.1:n.*700-9157_*700-9145del
ENST00000675926.1:c.948-9157_948-9145del (NDE1)	ENSP00000502354.1:n.948-9157_948-9145del
ENST00000675951.1:c.948-9157_948-9145del (NDE1)	ENSP00000502160.1:n.948-9157_948-9145del
ENST00000300036.5:c.5656_5668del (MYH11)	ENSP00000300036.5:p.Leu1886ArgfsTer?
ENST00000342673.9:c.948-9157_948-9145del (NDE1)	ENSP00000345892.5:n.948-9157_948-9145del
ENST00000396324.7:c.5677_5689del (MYH11)	ENSP00000379616.3:p.Leu1893ArgfsTer?
ENST00000396354.5:c.948-9157_948-9145del (NDE1)	ENSP00000379642.1:n.948-9157_948-9145del
ENST00000396355.5:c.948-9157_948-9145del (NDE1)	ENSP00000379643.1:n.948-9157_948-9145del
ENST00000452625.6:c.5677_5689del (MYH11)	ENSP00000407821.2:p.Leu1893ArgfsTer?
ENST00000571275.1:n.1944_1956del (MYH11)
ENST00000572967.1:c.453-9157_453-9145del (NDE1)	ENSP00000459918.1:n.453-9157_453-9145del
ENST00000573694.5:c.380-9157_380-9145del (NDE1)
ENST00000576164.5:n.3576_3588del (MYH11)
ENST00000576790.6:c.5656_5668del (MYH11)	ENSP00000458731.1:p.Leu1886ArgfsTer?
ENST00000616439.4:c.5677_5689del (MYH11)	ENSP00000484924.1:p.Leu1893ArgfsTer?
NM_001040113.1:c.5677_5689del (MYH11)	NP_001035202.1:p.Leu1893ArgfsTer?
NM_001040114.1:c.5677_5689del (MYH11)	NP_001035203.1:p.Leu1893ArgfsTer?
NM_001143979.1:c.948-9157_948-9145del (NDE1)	NP_001137451.1:n.948-9157_948-9145del
NM_002474.2:c.5656_5668del (MYH11)	NP_002465.1:p.Leu1886ArgfsTer?
NM_017668.2:c.948-9157_948-9145del (NDE1)	NP_060138.1:n.948-9157_948-9145del
NM_022844.2:c.5656_5668del (MYH11)	NP_074035.1:p.Leu1886ArgfsTer?
XM_011522502.1:c.5656_5668del (MYH11)	XP_011520804.1:p.Leu1886ArgfsTer?
XM_011522502.2:c.5656_5668del (MYH11)	XP_011520804.1:p.Leu1886ArgfsTer?
XM_017023250.1:c.5677_5689del (MYH11)	XP_016878739.1:p.Leu1893ArgfsTer?
NM_002474.3:c.5656_5668del (MYH11) MANE Select	NP_002465.1:p.Leu1886ArgfsTer?
NM_017668.3:c.948-9157_948-9145del (NDE1) MANE Select	NP_060138.1:n.948-9157_948-9145del
NM_001040113.2:c.5677_5689del (MYH11) MANE Plus Clinical	NP_001035202.1:p.Leu1893ArgfsTer?
NM_001143979.2:c.948-9157_948-9145del (NDE1)	NP_001137451.1:n.948-9157_948-9145del
NM_001040114.2:c.5677_5689del (MYH11)	NP_001035203.1:p.Leu1893ArgfsTer?
NM_022844.3:c.5656_5668del (MYH11)	NP_074035.1:p.Leu1886ArgfsTer?