Canonical Allele Identifier: CA277406
Gene: MYH11 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15735405_15735453del , CM000678.2:g.15735405_15735453del GRCh38
NC_000016.9:g.15829262_15829310del , CM000678.1:g.15829262_15829310del GRCh37
NC_000016.8:g.15736763_15736811del NCBI36
NG_009299.1:g.126581_126629del

Transcript Alleles

HGVS Amino-acid Change
ENST00000300036.6:c.3422_3470del MANE Select ENSP00000300036.5:p.Lys1141ThrfsTer20
ENST00000452625.7:c.3443_3491del MANE Plus Clinical ENSP00000407821.2:p.Lys1148ThrfsTer20
ENST00000576790.7:c.3422_3470del ENSP00000458731.1:p.Lys1141ThrfsTer20
ENST00000652121.1:c.*1605_*1653del ENSP00000498314.1:n.*1605_*1653del
ENST00000300036.5:c.3422_3470del ENSP00000300036.5:p.Lys1141ThrfsTer20
ENST00000396324.7:c.3443_3491del ENSP00000379616.3:p.Lys1148ThrfsTer20
ENST00000452625.6:c.3443_3491del ENSP00000407821.2:p.Lys1148ThrfsTer20
ENST00000576790.6:c.3422_3470del ENSP00000458731.1:p.Lys1141ThrfsTer20
ENST00000616439.4:c.3443_3491del ENSP00000484924.1:p.Lys1148ThrfsTer20
NM_001040113.1:c.3443_3491del NP_001035202.1:p.Lys1148ThrfsTer20
NM_001040114.1:c.3443_3491del NP_001035203.1:p.Lys1148ThrfsTer20
NM_002474.2:c.3422_3470del NP_002465.1:p.Lys1141ThrfsTer20
NM_022844.2:c.3422_3470del NP_074035.1:p.Lys1141ThrfsTer20
XM_011522502.1:c.3422_3470del XP_011520804.1:p.Lys1141ThrfsTer20
XM_011522502.2:c.3422_3470del XP_011520804.1:p.Lys1141ThrfsTer20
XM_017023250.1:c.3443_3491del XP_016878739.1:p.Lys1148ThrfsTer20
NM_002474.3:c.3422_3470del MANE Select NP_002465.1:p.Lys1141ThrfsTer20
NM_001040113.2:c.3443_3491del MANE Plus Clinical NP_001035202.1:p.Lys1148ThrfsTer20
NM_001040114.2:c.3443_3491del NP_001035203.1:p.Lys1148ThrfsTer20
NM_022844.3:c.3422_3470del NP_074035.1:p.Lys1141ThrfsTer20
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