Canonical Allele Identifier: CA752830524

Gene: MYH9

Linked Data

• dbSNP Id: rs1480890918
• gnomAD v3: 22-36282216-AAGG-A
• gnomAD v4: 22-36282216-AAGG-A
• MyVariant Identifiers: chr22:g.36678263_36678265del (hg19) ; chr22:g.36282217_36282219del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36282225_36282227del , CM000684.2:g.36282225_36282227del	GRCh38
NC_000022.10:g.36678271_36678273del , CM000684.1:g.36678271_36678273del	GRCh37
NC_000022.9:g.35008217_35008219del	NCBI36
NG_011884.2:g.110800_110802del , LRG_567:g.110800_110802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.2765_2767del
ENST00000685801.1:c.*449_*451del	ENSP00000510688.1:n.*449_*451del
ENST00000690244.1:n.1668_1670del
ENST00000691109.1:n.6627_6629del
ENST00000216181.11:c.*449_*451del MANE Select	ENSP00000216181.6:n.*449_*451del
ENST00000216181.9:c.*449_*451del	ENSP00000216181.5:n.*449_*451del
NM_002473.5:c.*449_*451del , LRG_567t1:c.*449_*451del	NP_002464.1:n.*449_*451del
XM_011530197.1:c.*449_*451del	XP_011528499.1:n.*449_*451del
XM_011530197.2:c.*449_*451del	XP_011528499.1:n.*449_*451del
XM_017028803.1:c.*449_*451del	XP_016884292.1:n.*449_*451del
XM_017028804.1:c.*449_*451del	XP_016884293.1:n.*449_*451del
XM_017028805.1:c.*449_*451del	XP_016884294.1:n.*449_*451del
XM_017028806.1:c.*449_*451del	XP_016884295.1:n.*449_*451del
NM_002473.6:c.*449_*451del MANE Select	NP_002464.1:n.*449_*451del