Canonical Allele Identifier: CA10209303

Gene: MYH9

Linked Data

• ClinVar Variation Id: 523083
• ClinVar RCV Id: RCV000626302
• dbSNP Id: rs770925540
• ExAC: 22:36684787 GCTT / G
• gnomAD v2: 22-36684787-GCTT-G
• gnomAD v4: 22-36288741-GCTT-G
• COSMIC: COSM5992100
• MyVariant Identifiers: chr22:g.36684788_36684790del (hg19) ; chr22:g.36288742_36288744del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36288750_36288752del , CM000684.2:g.36288750_36288752del	GRCh38
NC_000022.10:g.36684796_36684798del , CM000684.1:g.36684796_36684798del	GRCh37
NC_000022.9:g.35014742_35014744del	NCBI36
NG_011884.2:g.104275_104277del , LRG_567:g.104275_104277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685801.1:c.4816_4818del	ENSP00000510688.1:p.Lys1606del
ENST00000691109.1:n.5048_5050del
ENST00000216181.11:c.4753_4755del MANE Select	ENSP00000216181.6:p.Lys1585del
ENST00000216181.9:c.4753_4755del	ENSP00000216181.5:p.Lys1585del
NM_002473.5:c.4753_4755del , LRG_567t1:c.4753_4755del	NP_002464.1:p.Lys1585del
XM_011530197.1:c.4753_4755del	XP_011528499.1:p.Lys1585del
XM_011530197.2:c.4753_4755del	XP_011528499.1:p.Lys1585del
XM_017028803.1:c.4753_4755del	XP_016884292.1:p.Lys1585del
XM_017028804.1:c.4753_4755del	XP_016884293.1:p.Lys1585del
XM_017028805.1:c.4753_4755del	XP_016884294.1:p.Lys1585del
XM_017028806.1:c.4753_4755del	XP_016884295.1:p.Lys1585del
NM_002473.6:c.4753_4755del MANE Select	NP_002464.1:p.Lys1585del