Canonical Allele Identifier: CA658799817

Gene: CHM

Linked Data

• ClinVar Variation Id: 523365
• ClinVar RCV Id: RCV000626681
• dbSNP Id: rs1555968874
• MyVariant Identifiers: chrX:g.85282534_85282536del (hg19) ; chrX:g.86027530_86027532del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.86027532_86027534del , CM000685.2:g.86027532_86027534del	GRCh38
NC_000023.10:g.85282536_85282538del , CM000685.1:g.85282536_85282538del	GRCh37
NC_000023.9:g.85169192_85169194del	NCBI36
NG_009874.2:g.25031_25033del , LRG_699:g.25031_25033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.75_77del MANE Select	ENSP00000350386.2:p.Ala26del
ENST00000357749.6:c.75_77del	ENSP00000350386.2:p.Ala26del
ENST00000467744.2:n.85_87del
ENST00000483950.1:n.104_106del
ENST00000615443.1:c.75_77del	ENSP00000484306.1:p.Ala26del
NM_000390.2:c.75_77del , LRG_699t1:c.75_77del	NP_000381.1:p.Ala26del
NM_001145414.2:c.75_77del , LRG_699t2:c.75_77del	NP_001138886.1:p.Ala26del
XM_011530839.1:c.-370_-368del	XP_011529141.1:n.-370_-368del
NM_000390.3:c.75_77del	NP_000381.1:p.Ala26del
NM_001145414.3:c.75_77del	NP_001138886.1:p.Ala26del
NM_001320959.1:c.-370_-368del	NP_001307888.1:n.-370_-368del
NM_001362517.1:c.-370_-368del	NP_001349446.1:n.-370_-368del
NM_001362518.1:c.-366_-364del	NP_001349447.1:n.-366_-364del
NM_001362519.1:c.-366_-364del	NP_001349448.1:n.-366_-364del
XM_017029242.2:c.75_77del	XP_016884731.1:p.Ala26del
XM_017029246.1:c.-366_-364del	XP_016884735.1:n.-366_-364del
XM_024452331.1:c.-370_-368del	XP_024308099.1:n.-370_-368del
NM_000390.4:c.75_77del MANE Select	NP_000381.1:p.Ala26del
NM_001145414.4:c.75_77del	NP_001138886.1:p.Ala26del
NM_001362518.2:c.-366_-364del	NP_001349447.1:n.-366_-364del