Canonical Allele Identifier: CA2822218781
Gene: CHM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85956064dup , CM000685.2:g.85956064dup GRCh38
NC_000023.10:g.85211069dup , CM000685.1:g.85211069dup GRCh37
NC_000023.9:g.85097725dup NCBI36
NG_009874.2:g.96500dup , LRG_699:g.96500dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000357749.7:c.1166+90dup MANE Select ENSP00000350386.2:n.1166+90dup
ENST00000357749.6:c.1166+90dup ENSP00000350386.2:n.1166+90dup
ENST00000467744.2:n.126+71428dup
NM_000390.2:c.1166+90dup , LRG_699t1:c.1166+90dup NP_000381.1:n.1166+90dup
XM_006724615.2:c.1103+90dup XP_006724678.1:n.1103+90dup
XM_011530839.1:c.722+90dup XP_011529141.1:n.722+90dup
NM_000390.3:c.1166+90dup NP_000381.1:n.1166+90dup
NM_001320959.1:c.722+90dup NP_001307888.1:n.722+90dup
NM_001362517.1:c.722+90dup NP_001349446.1:n.722+90dup
NM_001362518.1:c.722+90dup NP_001349447.1:n.722+90dup
NM_001362519.1:c.722+90dup NP_001349448.1:n.722+90dup
XM_017029242.2:c.1166+90dup XP_016884731.1:n.1166+90dup
XM_017029246.1:c.722+90dup XP_016884735.1:n.722+90dup
XM_024452331.1:c.722+90dup XP_024308099.1:n.722+90dup
NM_000390.4:c.1166+90dup MANE Select NP_000381.1:n.1166+90dup
NM_001362518.2:c.722+90dup NP_001349447.1:n.722+90dup