Canonical Allele Identifier: CA752830488

Gene: MYH9

Linked Data

• dbSNP Id: rs1442394711
• gnomAD v3: 22-36282172-CAG-C
• gnomAD v4: 22-36282172-CAG-C
• MyVariant Identifiers: chr22:g.36678219_36678220del (hg19) ; chr22:g.36282173_36282174del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36282175_36282176del , CM000684.2:g.36282175_36282176del	GRCh38
NC_000022.10:g.36678221_36678222del , CM000684.1:g.36678221_36678222del	GRCh37
NC_000022.9:g.35008167_35008168del	NCBI36
NG_011884.2:g.110845_110846del , LRG_567:g.110845_110846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2810_2811del
ENST00000685801.1:c.*494_*495del	ENSP00000510688.1:n.*494_*495del
ENST00000690244.1:n.1713_1714del
ENST00000691109.1:n.6672_6673del
ENST00000216181.11:c.*494_*495del MANE Select	ENSP00000216181.6:n.*494_*495del
ENST00000216181.9:c.*494_*495del	ENSP00000216181.5:n.*494_*495del
NM_002473.5:c.*494_*495del , LRG_567t1:c.*494_*495del	NP_002464.1:n.*494_*495del
XM_011530197.1:c.*494_*495del	XP_011528499.1:n.*494_*495del
XM_011530197.2:c.*494_*495del	XP_011528499.1:n.*494_*495del
XM_017028803.1:c.*494_*495del	XP_016884292.1:n.*494_*495del
XM_017028804.1:c.*494_*495del	XP_016884293.1:n.*494_*495del
XM_017028805.1:c.*494_*495del	XP_016884294.1:n.*494_*495del
XM_017028806.1:c.*494_*495del	XP_016884295.1:n.*494_*495del
NM_002473.6:c.*494_*495del MANE Select	NP_002464.1:n.*494_*495del