Canonical Allele Identifier: CA2695234655
Gene: CHM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85878965del , CM000685.2:g.85878965del GRCh38
NC_000023.10:g.85133970del , CM000685.1:g.85133970del GRCh37
NC_000023.9:g.85020626del NCBI36
NG_009874.2:g.173599del , LRG_699:g.173599del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357749.7:c.1609+1del
ENST00000357749.6:c.1609+1del
ENST00000467744.2:n.127-15870del
NM_000390.2:c.1609+1del , LRG_699t1:c.1609+1del
XM_006724615.2:c.1546+1del
XM_011530839.1:c.1165+1del
NM_000390.3:c.1609+1del
NM_001320959.1:c.1165+1del
NM_001362517.1:c.1165+1del
NM_001362518.1:c.1165+1del
NM_001362519.1:c.1165+1del
XM_017029242.2:c.1609+1del
XM_017029246.1:c.1165+1del
XM_024452331.1:c.1165+1del
NM_000390.4:c.1609+1del
NM_001362518.2:c.1165+1del