Canonical Allele Identifier: CA10603698
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 279773
ClinVar RCV Id: RCV000355316 RCV001073739
dbSNP Id: rs886041177
MyVariant Identifiers: chrX:g.85218846_85218847del (hg19) chrX:g.85963841_85963842del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85963841_85963842del , CM000685.2:g.85963841_85963842del GRCh38
NC_000023.10:g.85218846_85218847del , CM000685.1:g.85218846_85218847del GRCh37
NC_000023.9:g.85105502_85105503del NCBI36
NG_009874.2:g.88721_88722del , LRG_699:g.88721_88722del

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.7:c.525_526del MANE Select ENSP00000350386.2:p.Glu177LysfsTer6
ENST00000357749.6:c.525_526del ENSP00000350386.2:p.Glu177LysfsTer6
ENST00000467744.2:n.126+63649_126+63650del
NM_000390.2:c.525_526del , LRG_699t1:c.525_526del NP_000381.1:p.Glu177LysfsTer6
XM_006724615.2:c.462_463del XP_006724678.1:p.Glu156LysfsTer6
XM_011530839.1:c.81_82del XP_011529141.1:p.Glu29LysfsTer6
NM_000390.3:c.525_526del NP_000381.1:p.Glu177LysfsTer6
NM_001320959.1:c.81_82del NP_001307888.1:p.Glu29LysfsTer6
NM_001362517.1:c.81_82del NP_001349446.1:p.Glu29LysfsTer6
NM_001362518.1:c.81_82del NP_001349447.1:p.Glu29LysfsTer6
NM_001362519.1:c.81_82del NP_001349448.1:p.Glu29LysfsTer6
XM_017029242.2:c.525_526del XP_016884731.1:p.Glu177LysfsTer6
XM_017029246.1:c.81_82del XP_016884735.1:p.Glu29LysfsTer6
XM_024452331.1:c.81_82del XP_024308099.1:p.Glu29LysfsTer6
NM_000390.4:c.525_526del MANE Select NP_000381.1:p.Glu177LysfsTer6
NM_001362518.2:c.81_82del NP_001349447.1:p.Glu29LysfsTer6
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