Canonical Allele Identifier: CA255739
Gene: CHM HGNC NCBI

Linked Data

dbSNP Id: rs587776746

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85878992_85878995del , CM000685.2:g.85878992_85878995del GRCh38
NC_000023.10:g.85133997_85134000del , CM000685.1:g.85133997_85134000del GRCh37
NC_000023.9:g.85020653_85020656del NCBI36
NG_009874.2:g.173573_173576del , LRG_699:g.173573_173576del

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.7:c.1584_1587del MANE Select ENSP00000350386.2:p.Val529HisfsTer7
ENST00000357749.6:c.1584_1587del ENSP00000350386.2:p.Val529HisfsTer7
ENST00000467744.2:n.127-15896_127-15893del
NM_000390.2:c.1584_1587del , LRG_699t1:c.1584_1587del NP_000381.1:p.Val529HisfsTer7
XM_006724615.2:c.1521_1524del XP_006724678.1:p.Val508HisfsTer7
XM_011530839.1:c.1140_1143del XP_011529141.1:p.Val381HisfsTer7
NM_000390.3:c.1584_1587del NP_000381.1:p.Val529HisfsTer7
NM_001320959.1:c.1140_1143del NP_001307888.1:p.Val381HisfsTer7
NM_001362517.1:c.1140_1143del NP_001349446.1:p.Val381HisfsTer7
NM_001362518.1:c.1140_1143del NP_001349447.1:p.Val381HisfsTer7
NM_001362519.1:c.1140_1143del NP_001349448.1:p.Val381HisfsTer7
XM_017029242.2:c.1584_1587del XP_016884731.1:p.Val529HisfsTer7
XM_017029246.1:c.1140_1143del XP_016884735.1:p.Val381HisfsTer7
XM_024452331.1:c.1140_1143del XP_024308099.1:p.Val381HisfsTer7
NM_000390.4:c.1584_1587del MANE Select NP_000381.1:p.Val529HisfsTer7
NM_001362518.2:c.1140_1143del NP_001349447.1:p.Val381HisfsTer7