Canonical Allele Identifier: CA10643037

Gene: MYH11 NDE1

Linked Data

• ClinVar Variation Id: 318080
• ClinVar RCV Id: RCV000276499 ; RCV000331611
• dbSNP Id: rs768695681
• gnomAD v2: 16-15797368-CTG-C
• gnomAD v3: 16-15703511-CTG-C
• gnomAD v4: 16-15703511-CTG-C
• MyVariant Identifiers: chr16:g.15797372_15797373del (hg19) ; chr16:g.15797369_15797370del (hg19) ; chr16:g.15703515_15703516del (hg38) ; chr16:g.15703512_15703513del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15703515_15703516del , CM000678.2:g.15703515_15703516del	GRCh38
NC_000016.9:g.15797372_15797373del , CM000678.1:g.15797372_15797373del	GRCh37
NC_000016.8:g.15704873_15704874del	NCBI36
NG_009299.1:g.158518_158519del
NG_021210.1:g.65249_65250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.*478_*479del (MYH11) MANE Select	ENSP00000300036.5:n.*478_*479del
ENST00000396354.6:c.947+6655_947+6656del (NDE1) MANE Select	ENSP00000379642.1:n.947+6655_947+6656del
ENST00000452625.7:c.*619_*620del (MYH11) MANE Plus Clinical	ENSP00000407821.2:n.*619_*620del
ENST00000572756.6:c.795+9259_795+9260del (NDE1)	ENSP00000460436.2:n.795+9259_795+9260del
ENST00000577101.6:c.1030+6655_1030+6656del (NDE1)	ENSP00000461729.2:n.1030+6655_1030+6656del
ENST00000674538.1:c.795+9259_795+9260del (NDE1)	ENSP00000501547.1:n.795+9259_795+9260del
ENST00000674554.1:c.947+6655_947+6656del (NDE1)	ENSP00000502635.1:n.947+6655_947+6656del
ENST00000674581.1:c.*6+6655_*6+6656del (NDE1)	ENSP00000502100.1:n.*6+6655_*6+6656del
ENST00000674588.1:c.795+9259_795+9260del (NDE1)	ENSP00000502802.1:n.795+9259_795+9260del
ENST00000674888.1:c.947+6655_947+6656del (NDE1)	ENSP00000501936.1:n.947+6655_947+6656del
ENST00000674900.1:c.*348+6655_*348+6656del (NDE1)	ENSP00000502662.1:n.*348+6655_*348+6656del
ENST00000674995.1:c.795+9259_795+9260del (NDE1)	ENSP00000502414.1:n.795+9259_795+9260del
ENST00000675171.1:c.*699+6655_*699+6656del (NDE1)	ENSP00000501812.1:n.*699+6655_*699+6656del
ENST00000675926.1:c.947+6655_947+6656del (NDE1)	ENSP00000502354.1:n.947+6655_947+6656del
ENST00000675951.1:c.947+6655_947+6656del (NDE1)	ENSP00000502160.1:n.947+6655_947+6656del
ENST00000342673.9:c.947+6655_947+6656del (NDE1)	ENSP00000345892.5:n.947+6655_947+6656del
ENST00000396324.7:c.*478_*479del (MYH11)	ENSP00000379616.3:n.*478_*479del
ENST00000396354.5:c.947+6655_947+6656del (NDE1)	ENSP00000379642.1:n.947+6655_947+6656del
ENST00000396355.5:c.947+6655_947+6656del (NDE1)	ENSP00000379643.1:n.947+6655_947+6656del
ENST00000452625.6:c.*619_*620del (MYH11)	ENSP00000407821.2:n.*619_*620del
ENST00000572967.1:c.452+3661_452+3662del (NDE1)	ENSP00000459918.1:n.452+3661_452+3662del
ENST00000573694.5:c.379+3661_379+3662del (NDE1)
ENST00000616439.4:c.*366_*367del (MYH11)	ENSP00000484924.1:n.*366_*367del
NM_001040113.1:c.*619_*620del (MYH11)	NP_001035202.1:n.*619_*620del
NM_001040114.1:c.*478_*479del (MYH11)	NP_001035203.1:n.*478_*479del
NM_001143979.1:c.947+6655_947+6656del (NDE1)	NP_001137451.1:n.947+6655_947+6656del
NM_002474.2:c.*478_*479del (MYH11)	NP_002465.1:n.*478_*479del
NM_017668.2:c.947+6655_947+6656del (NDE1)	NP_060138.1:n.947+6655_947+6656del
NM_022844.2:c.*619_*620del (MYH11)	NP_074035.1:n.*619_*620del
NM_002474.3:c.*478_*479del (MYH11) MANE Select	NP_002465.1:n.*478_*479del
NM_017668.3:c.947+6655_947+6656del (NDE1) MANE Select	NP_060138.1:n.947+6655_947+6656del
NM_001040113.2:c.*619_*620del (MYH11) MANE Plus Clinical	NP_001035202.1:n.*619_*620del
NM_001143979.2:c.947+6655_947+6656del (NDE1)	NP_001137451.1:n.947+6655_947+6656del
NM_001040114.2:c.*478_*479del (MYH11)	NP_001035203.1:n.*478_*479del
NM_022844.3:c.*619_*620del (MYH11)	NP_074035.1:n.*619_*620del