Canonical Allele Identifier: CA10605857
Gene: CHM HGNC NCBI

Linked Data

dbSNP Id: rs886043716

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85963720_85963723del , CM000685.2:g.85963720_85963723del GRCh38
NC_000023.10:g.85218725_85218728del , CM000685.1:g.85218725_85218728del GRCh37
NC_000023.9:g.85105381_85105384del NCBI36
NG_009874.2:g.88845_88848del , LRG_699:g.88845_88848del

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.7:c.649_652del MANE Select ENSP00000350386.2:p.Tyr217HisfsTer14
ENST00000357749.6:c.649_652del ENSP00000350386.2:p.Tyr217HisfsTer14
ENST00000467744.2:n.126+63773_126+63776del
NM_000390.2:c.649_652del , LRG_699t1:c.649_652del NP_000381.1:p.Tyr217HisfsTer14
XM_006724615.2:c.586_589del XP_006724678.1:p.Tyr196HisfsTer14
XM_011530839.1:c.205_208del XP_011529141.1:p.Tyr69HisfsTer14
NM_000390.3:c.649_652del NP_000381.1:p.Tyr217HisfsTer14
NM_001320959.1:c.205_208del NP_001307888.1:p.Tyr69HisfsTer14
NM_001362517.1:c.205_208del NP_001349446.1:p.Tyr69HisfsTer14
NM_001362518.1:c.205_208del NP_001349447.1:p.Tyr69HisfsTer14
NM_001362519.1:c.205_208del NP_001349448.1:p.Tyr69HisfsTer14
XM_017029242.2:c.649_652del XP_016884731.1:p.Tyr217HisfsTer14
XM_017029246.1:c.205_208del XP_016884735.1:p.Tyr69HisfsTer14
XM_024452331.1:c.205_208del XP_024308099.1:p.Tyr69HisfsTer14
NM_000390.4:c.649_652del MANE Select NP_000381.1:p.Tyr217HisfsTer14
NM_001362518.2:c.205_208del NP_001349447.1:p.Tyr69HisfsTer14