Canonical Allele Identifier: CA2442478969
Gene: CHM HGNC NCBI

Linked Data

dbSNP Id: rs1930162924

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85959164dup , CM000685.2:g.85959164dup GRCh38
NC_000023.10:g.85214169dup , CM000685.1:g.85214169dup GRCh37
NC_000023.9:g.85100825dup NCBI36
NG_009874.2:g.93404dup , LRG_699:g.93404dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000357749.7:c.703-182dup MANE Select ENSP00000350386.2:n.703-182dup
ENST00000357749.6:c.703-182dup ENSP00000350386.2:n.703-182dup
ENST00000467744.2:n.126+68332dup
NM_000390.2:c.703-182dup , LRG_699t1:c.703-182dup NP_000381.1:n.703-182dup
XM_006724615.2:c.640-182dup XP_006724678.1:n.640-182dup
XM_011530839.1:c.259-182dup XP_011529141.1:n.259-182dup
NM_000390.3:c.703-182dup NP_000381.1:n.703-182dup
NM_001320959.1:c.259-182dup NP_001307888.1:n.259-182dup
NM_001362517.1:c.259-182dup NP_001349446.1:n.259-182dup
NM_001362518.1:c.259-182dup NP_001349447.1:n.259-182dup
NM_001362519.1:c.259-182dup NP_001349448.1:n.259-182dup
XM_017029242.2:c.703-182dup XP_016884731.1:n.703-182dup
XM_017029246.1:c.259-182dup XP_016884735.1:n.259-182dup
XM_024452331.1:c.259-182dup XP_024308099.1:n.259-182dup
NM_000390.4:c.703-182dup MANE Select NP_000381.1:n.703-182dup
NM_001362518.2:c.259-182dup NP_001349447.1:n.259-182dup