Canonical Allele Identifier: CA346470

Gene: MYH11 NDE1

Linked Data

• ClinVar Variation Id: 180420
• ClinVar RCV Id: RCV000157334 ; RCV000254668 ; RCV000466385
• dbSNP Id: rs730880147
• ExAC: 16:15820794 GCTT / G
• gnomAD v2: 16-15820794-GCTT-G
• gnomAD v3: 16-15726937-GCTT-G
• gnomAD v4: 16-15726937-GCTT-G
• COSMIC: COSM265603 ; COSM265604
• MyVariant Identifiers: chr16:g.15820795_15820797del (hg19) ; chr16:g.15726938_15726940del (hg38)
• PubMed: PMID:22968129 ; PMID:25907466 ; PMID:26056961 ; PMID:28074631

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15726947_15726949del , CM000678.2:g.15726947_15726949del	GRCh38
NC_000016.9:g.15820804_15820806del , CM000678.1:g.15820804_15820806del	GRCh37
NC_000016.8:g.15728305_15728307del	NCBI36
NG_009299.1:g.135091_135093del
NG_021210.1:g.88681_88683del

Transcript Alleles

HGVS	Amino-acid change
ENST00000300036.6:c.3766_3768del (MYH11) MANE Select	ENSP00000300036.5:p.Lys1256del
ENST00000452625.7:c.3787_3789del (MYH11) MANE Plus Clinical	ENSP00000407821.2:p.Lys1263del
ENST00000576790.7:c.3766_3768del (MYH11)	ENSP00000458731.1:p.Lys1256del
ENST00000652121.1:c.*1949_*1951del (MYH11)	ENSP00000498314.1:n.*1949_*1951del
ENST00000674538.1:c.*1315_*1317del (NDE1)	ENSP00000501547.1:n.*1315_*1317del
ENST00000674554.1:c.*868+1828_*868+1830del (NDE1)	ENSP00000502635.1:n.*868+1828_*868+1830de...
ENST00000674588.1:c.*2514_*2516del (NDE1)	ENSP00000502802.1:n.*2514_*2516del
ENST00000674888.1:c.*868+1828_*868+1830del (NDE1)	ENSP00000501936.1:n.*868+1828_*868+1830de...
ENST00000674900.1:c.*1277+1828_*1277+1830del (NDE1)	ENSP00000502662.1:n.*1277+1828_*1277+1830...
ENST00000674995.1:c.*2514_*2516del (NDE1)	ENSP00000502414.1:n.*2514_*2516del
ENST00000675171.1:c.*1628+1828_*1628+1830del (NDE1)	ENSP00000501812.1:n.*1628+1828_*1628+1830...
ENST00000675926.1:c.*868+1828_*868+1830del (NDE1)	ENSP00000502354.1:n.*868+1828_*868+1830de...
ENST00000675951.1:c.*2696_*2698del (NDE1)	ENSP00000502160.1:n.*2696_*2698del
ENST00000300036.5:c.3766_3768del (MYH11)	ENSP00000300036.5:p.Lys1256del
ENST00000396324.7:c.3787_3789del (MYH11)	ENSP00000379616.3:p.Lys1263del
ENST00000452625.6:c.3787_3789del (MYH11)	ENSP00000407821.2:p.Lys1263del
ENST00000576790.6:c.3766_3768del (MYH11)	ENSP00000458731.1:p.Lys1256del
ENST00000616439.4:c.3787_3789del (MYH11)	ENSP00000484924.1:p.Lys1263del
NM_001040113.1:c.3787_3789del (MYH11)	NP_001035202.1:p.Lys1263del
NM_001040114.1:c.3787_3789del (MYH11)	NP_001035203.1:p.Lys1263del
NM_002474.2:c.3766_3768del (MYH11)	NP_002465.1:p.Lys1256del
NM_022844.2:c.3766_3768del (MYH11)	NP_074035.1:p.Lys1256del
XM_011522502.1:c.3766_3768del (MYH11)	XP_011520804.1:p.Lys1256del
XM_011522502.2:c.3766_3768del (MYH11)	XP_011520804.1:p.Lys1256del
XM_017023250.1:c.3787_3789del (MYH11)	XP_016878739.1:p.Lys1263del
NM_002474.3:c.3766_3768del (MYH11) MANE Select	NP_002465.1:p.Lys1256del
NM_001040113.2:c.3787_3789del (MYH11) MANE Plus Clinical	NP_001035202.1:p.Lys1263del
NM_001040114.2:c.3787_3789del (MYH11)	NP_001035203.1:p.Lys1263del
NM_022844.3:c.3766_3768del (MYH11)	NP_074035.1:p.Lys1256del