Canonical Allele Identifier: CA10603640
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 279772
ClinVar RCV Id: RCV000319155 RCV001073362
dbSNP Id: rs886041176
MyVariant Identifiers: chrX:g.85219054_85219057del (hg19) chrX:g.85964049_85964052del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85964051_85964054del , CM000685.2:g.85964051_85964054del GRCh38
NC_000023.10:g.85219056_85219059del , CM000685.1:g.85219056_85219059del GRCh37
NC_000023.9:g.85105712_85105715del NCBI36
NG_009874.2:g.88511_88514del , LRG_699:g.88511_88514del

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.7:c.315_318del
ENST00000357749.6:c.315_318del
ENST00000467744.2:n.126+63439_126+63442del
NM_000390.2:c.315_318del , LRG_699t1:c.315_318del
XM_006724615.2:c.252_255del
XM_011530839.1:c.-130_-127del
NM_000390.3:c.315_318del
NM_001320959.1:c.-130_-127del
NM_001362517.1:c.-130_-127del
NM_001362518.1:c.-126-4_-126-1del NP_001349447.1:n.-126-4_-126-1del
NM_001362519.1:c.-126-4_-126-1del NP_001349448.1:n.-126-4_-126-1del
XM_017029242.2:c.315_318del
XM_017029246.1:c.-126-4_-126-1del XP_016884735.1:n.-126-4_-126-1del
XM_024452331.1:c.-130_-127del
NM_000390.4:c.315_318del
NM_001362518.2:c.-126-4_-126-1del NP_001349447.1:n.-126-4_-126-1del
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