Canonical Allele Identifier: CA2403794995
Gene: MYH9 HGNC NCBI

Linked Data

dbSNP Id: rs2016499007
gnomAD v4: 22-36282080-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36282084del , CM000684.2:g.36282084del GRCh38
NC_000022.10:g.36678130del , CM000684.1:g.36678130del GRCh37
NC_000022.9:g.35008076del NCBI36
NG_011884.2:g.110938del , LRG_567:g.110938del

Transcript Alleles

HGVS Amino-acid Change
ENST00000685708.1:n.2903del
ENST00000685801.1:c.*587del ENSP00000510688.1:n.*587del
ENST00000690244.1:n.1806del
ENST00000691109.1:n.6765del
ENST00000216181.11:c.*587del MANE Select ENSP00000216181.6:n.*587del
ENST00000216181.9:c.*587del ENSP00000216181.5:n.*587del
NM_002473.5:c.*587del , LRG_567t1:c.*587del NP_002464.1:n.*587del
XM_011530197.1:c.*587del XP_011528499.1:n.*587del
XM_011530197.2:c.*587del XP_011528499.1:n.*587del
XM_017028803.1:c.*587del XP_016884292.1:n.*587del
XM_017028804.1:c.*587del XP_016884293.1:n.*587del
XM_017028805.1:c.*587del XP_016884294.1:n.*587del
XM_017028806.1:c.*587del XP_016884295.1:n.*587del
NM_002473.6:c.*587del MANE Select NP_002464.1:n.*587del
Search 100 bp 5'
Search 100 bp 3'