Canonical Allele Identifier: CA277177

Gene: MYH11

Linked Data

• ClinVar Variation Id: 211547
• ClinVar RCV Id: RCV000193616 ; RCV001449891
• dbSNP Id: rs749497185
• ExAC: 16:15835368 CCT / C
• gnomAD v2: 16-15835368-CCT-C
• gnomAD v4: 16-15741511-CCT-C
• MyVariant Identifiers: chr16:g.15835369_15835370del (hg19) ; chr16:g.15741512_15741513del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15741512_15741513del , CM000678.2:g.15741512_15741513del	GRCh38
NC_000016.9:g.15835369_15835370del , CM000678.1:g.15835369_15835370del	GRCh37
NC_000016.8:g.15742870_15742871del	NCBI36
NG_009299.1:g.120518_120519del

Transcript Alleles

HGVS	Amino-acid change
ENST00000300036.6:c.2809_2810del MANE Select	ENSP00000300036.5:p.Arg937GlyfsTer7
ENST00000452625.7:c.2830_2831del MANE Plus Clinical	ENSP00000407821.2:p.Arg944GlyfsTer7
ENST00000576790.7:c.2809_2810del	ENSP00000458731.1:p.Arg937GlyfsTer7
ENST00000652121.1:c.*992_*993del	ENSP00000498314.1:n.*992_*993del
ENST00000300036.5:c.2809_2810del	ENSP00000300036.5:p.Arg937GlyfsTer7
ENST00000396324.7:c.2830_2831del	ENSP00000379616.3:p.Arg944GlyfsTer7
ENST00000452625.6:c.2830_2831del	ENSP00000407821.2:p.Arg944GlyfsTer7
ENST00000576790.6:c.2809_2810del	ENSP00000458731.1:p.Arg937GlyfsTer7
ENST00000616439.4:c.2830_2831del	ENSP00000484924.1:p.Arg944GlyfsTer7
NM_001040113.1:c.2830_2831del	NP_001035202.1:p.Arg944GlyfsTer7
NM_001040114.1:c.2830_2831del	NP_001035203.1:p.Arg944GlyfsTer7
NM_002474.2:c.2809_2810del	NP_002465.1:p.Arg937GlyfsTer7
NM_022844.2:c.2809_2810del	NP_074035.1:p.Arg937GlyfsTer7
XM_011522502.1:c.2809_2810del	XP_011520804.1:p.Arg937GlyfsTer7
XM_011522502.2:c.2809_2810del	XP_011520804.1:p.Arg937GlyfsTer7
XM_017023250.1:c.2830_2831del	XP_016878739.1:p.Arg944GlyfsTer7
NM_002474.3:c.2809_2810del MANE Select	NP_002465.1:p.Arg937GlyfsTer7
NM_001040113.2:c.2830_2831del MANE Plus Clinical	NP_001035202.1:p.Arg944GlyfsTer7
NM_001040114.2:c.2830_2831del	NP_001035203.1:p.Arg944GlyfsTer7
NM_022844.3:c.2809_2810del	NP_074035.1:p.Arg937GlyfsTer7