Canonical Allele Identifier: CA913184398
Gene: CHM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85879065_85879068del , CM000685.2:g.85879065_85879068del GRCh38
NC_000023.10:g.85134070_85134073del , CM000685.1:g.85134070_85134073del GRCh37
NC_000023.9:g.85020726_85020729del NCBI36
NG_009874.2:g.173495_173498del , LRG_699:g.173495_173498del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357749.7:c.1511-5_1511-2del MANE Select ENSP00000350386.2:n.1511-5_1511-2del
ENST00000357749.6:c.1511-5_1511-2del ENSP00000350386.2:n.1511-5_1511-2del
ENST00000467744.2:n.127-15974_127-15971del
NM_000390.2:c.1511-5_1511-2del , LRG_699t1:c.1511-5_1511-2del NP_000381.1:n.1511-5_1511-2del
XM_006724615.2:c.1448-5_1448-2del XP_006724678.1:n.1448-5_1448-2del
XM_011530839.1:c.1067-5_1067-2del XP_011529141.1:n.1067-5_1067-2del
NM_000390.3:c.1511-5_1511-2del NP_000381.1:n.1511-5_1511-2del
NM_001320959.1:c.1067-5_1067-2del NP_001307888.1:n.1067-5_1067-2del
NM_001362517.1:c.1067-5_1067-2del NP_001349446.1:n.1067-5_1067-2del
NM_001362518.1:c.1067-5_1067-2del NP_001349447.1:n.1067-5_1067-2del
NM_001362519.1:c.1067-5_1067-2del NP_001349448.1:n.1067-5_1067-2del
XM_017029242.2:c.1511-5_1511-2del XP_016884731.1:n.1511-5_1511-2del
XM_017029246.1:c.1067-5_1067-2del XP_016884735.1:n.1067-5_1067-2del
XM_024452331.1:c.1067-5_1067-2del XP_024308099.1:n.1067-5_1067-2del
NM_000390.4:c.1511-5_1511-2del MANE Select NP_000381.1:n.1511-5_1511-2del
NM_001362518.2:c.1067-5_1067-2del NP_001349447.1:n.1067-5_1067-2del