Canonical Allele Identifier: CA718495039

Gene: MYH11 NDE1

Linked Data

• dbSNP Id: rs747874749
• gnomAD v3: 16-15704250-AACAC-A
• gnomAD v4: 16-15704250-AACAC-A
• MyVariant Identifiers: chr16:g.15798108_15798111del (hg19) ; chr16:g.15704251_15704254del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15704255_15704258del , CM000678.2:g.15704255_15704258del	GRCh38
NC_000016.9:g.15798112_15798115del , CM000678.1:g.15798112_15798115del	GRCh37
NC_000016.8:g.15705613_15705616del	NCBI36
NG_009299.1:g.157777_157780del
NG_021210.1:g.65989_65992del

Transcript Alleles

HGVS	Amino-acid change
ENST00000300036.6:c.5787-131_5787-128del (MYH11) MANE Select	ENSP00000300036.5:n.5787-131_5787-128del
ENST00000396354.6:c.947+7395_947+7398del (NDE1) MANE Select	ENSP00000379642.1:n.947+7395_947+7398del
ENST00000452625.7:c.*9-131_*9-128del (MYH11) MANE Plus Clinical	ENSP00000407821.2:n.*9-131_*9-128del
ENST00000572756.6:c.795+9999_795+10002del (NDE1)	ENSP00000460436.2:n.795+9999_795+10002del...
ENST00000576790.7:c.*9-131_*9-128del (MYH11)	ENSP00000458731.1:n.*9-131_*9-128del
ENST00000577101.6:c.1030+7395_1030+7398del (NDE1)	ENSP00000461729.2:n.1030+7395_1030+7398de...
ENST00000652121.1:c.*3970-131_*3970-128del (MYH11)	ENSP00000498314.1:n.*3970-131_*3970-128de...
ENST00000674538.1:c.795+9999_795+10002del (NDE1)	ENSP00000501547.1:n.795+9999_795+10002del...
ENST00000674554.1:c.947+7395_947+7398del (NDE1)	ENSP00000502635.1:n.947+7395_947+7398del
ENST00000674581.1:c.*6+7395_*6+7398del (NDE1)	ENSP00000502100.1:n.*6+7395_*6+7398del
ENST00000674588.1:c.795+9999_795+10002del (NDE1)	ENSP00000502802.1:n.795+9999_795+10002del...
ENST00000674888.1:c.947+7395_947+7398del (NDE1)	ENSP00000501936.1:n.947+7395_947+7398del
ENST00000674900.1:c.*348+7395_*348+7398del (NDE1)	ENSP00000502662.1:n.*348+7395_*348+7398de...
ENST00000674995.1:c.795+9999_795+10002del (NDE1)	ENSP00000502414.1:n.795+9999_795+10002del...
ENST00000675171.1:c.*699+7395_*699+7398del (NDE1)	ENSP00000501812.1:n.*699+7395_*699+7398de...
ENST00000675926.1:c.947+7395_947+7398del (NDE1)	ENSP00000502354.1:n.947+7395_947+7398del
ENST00000675951.1:c.947+7395_947+7398del (NDE1)	ENSP00000502160.1:n.947+7395_947+7398del
ENST00000300036.5:c.5787-131_5787-128del (MYH11)	ENSP00000300036.5:n.5787-131_5787-128del
ENST00000342673.9:c.947+7395_947+7398del (NDE1)	ENSP00000345892.5:n.947+7395_947+7398del
ENST00000396324.7:c.5808-131_5808-128del (MYH11)	ENSP00000379616.3:n.5808-131_5808-128del
ENST00000396354.5:c.947+7395_947+7398del (NDE1)	ENSP00000379642.1:n.947+7395_947+7398del
ENST00000396355.5:c.947+7395_947+7398del (NDE1)	ENSP00000379643.1:n.947+7395_947+7398del
ENST00000452625.6:c.*9-131_*9-128del (MYH11)	ENSP00000407821.2:n.*9-131_*9-128del
ENST00000572967.1:c.452+4401_452+4404del (NDE1)	ENSP00000459918.1:n.452+4401_452+4404del
ENST00000573694.5:c.379+4401_379+4404del (NDE1)
ENST00000573908.1:n.159-131_159-128del (MYH11)
ENST00000576790.6:c.*9-131_*9-128del (MYH11)	ENSP00000458731.1:n.*9-131_*9-128del
ENST00000616439.4:c.5846-131_5846-128del (MYH11)	ENSP00000484924.1:n.5846-131_5846-128del
NM_001040113.1:c.*9-131_*9-128del (MYH11)	NP_001035202.1:n.*9-131_*9-128del
NM_001040114.1:c.5808-131_5808-128del (MYH11)	NP_001035203.1:n.5808-131_5808-128del
NM_001143979.1:c.947+7395_947+7398del (NDE1)	NP_001137451.1:n.947+7395_947+7398del
NM_002474.2:c.5787-131_5787-128del (MYH11)	NP_002465.1:n.5787-131_5787-128del
NM_017668.2:c.947+7395_947+7398del (NDE1)	NP_060138.1:n.947+7395_947+7398del
NM_022844.2:c.*9-131_*9-128del (MYH11)	NP_074035.1:n.*9-131_*9-128del
NM_002474.3:c.5787-131_5787-128del (MYH11) MANE Select	NP_002465.1:n.5787-131_5787-128del
NM_017668.3:c.947+7395_947+7398del (NDE1) MANE Select	NP_060138.1:n.947+7395_947+7398del
NM_001040113.2:c.*9-131_*9-128del (MYH11) MANE Plus Clinical	NP_001035202.1:n.*9-131_*9-128del
NM_001143979.2:c.947+7395_947+7398del (NDE1)	NP_001137451.1:n.947+7395_947+7398del
NM_001040114.2:c.5808-131_5808-128del (MYH11)	NP_001035203.1:n.5808-131_5808-128del
NM_022844.3:c.*9-131_*9-128del (MYH11)	NP_074035.1:n.*9-131_*9-128del