Canonical Allele Identifier: CA2403795049

Gene: MYH9

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36282172_36282174delinsCAG , CM000684.2:g.36282172_36282174delinsCAG	GRCh38
NC_000022.10:g.36678218_36678220delinsCAG , CM000684.1:g.36678218_36678220delinsCAG	GRCh37
NC_000022.9:g.35008164_35008166delinsCAG	NCBI36
NG_011884.2:g.110845_110847delinsCTG , LRG_567:g.110845_110847delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2810_2812delinsCTG
ENST00000685801.1:c.*494_*496delinsCTG	ENSP00000510688.1:n.*494_*496delinsCTG
ENST00000690244.1:n.1713_1715delinsCTG
ENST00000691109.1:n.6672_6674delinsCTG
ENST00000216181.11:c.*494_*496delinsCTG MANE Select	ENSP00000216181.6:n.*494_*496delinsCTG
ENST00000216181.9:c.*494_*496delinsCTG	ENSP00000216181.5:n.*494_*496delinsCTG
NM_002473.5:c.*494_*496delinsCTG , LRG_567t1:c.*494_*496delinsCTG	NP_002464.1:n.*494_*496delinsCTG
XM_011530197.1:c.*494_*496delinsCTG	XP_011528499.1:n.*494_*496delinsCTG
XM_011530197.2:c.*494_*496delinsCTG	XP_011528499.1:n.*494_*496delinsCTG
XM_017028803.1:c.*494_*496delinsCTG	XP_016884292.1:n.*494_*496delinsCTG
XM_017028804.1:c.*494_*496delinsCTG	XP_016884293.1:n.*494_*496delinsCTG
XM_017028805.1:c.*494_*496delinsCTG	XP_016884294.1:n.*494_*496delinsCTG
XM_017028806.1:c.*494_*496delinsCTG	XP_016884295.1:n.*494_*496delinsCTG
NM_002473.6:c.*494_*496delinsCTG MANE Select	NP_002464.1:n.*494_*496delinsCTG