Canonical Allele Identifier: CA658799816

Gene: CHM

Linked Data

• ClinVar Variation Id: 440813
• ClinVar RCV Id: RCV000625730
• dbSNP Id: rs1555958073
• MyVariant Identifiers: chrX:g.85233805del (hg19) ; chrX:g.85978801del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85978804del , CM000685.2:g.85978804del	GRCh38
NC_000023.10:g.85233808del , CM000685.1:g.85233808del	GRCh37
NC_000023.9:g.85120464del	NCBI36
NG_009874.2:g.73762del , LRG_699:g.73762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.280del MANE Select	ENSP00000350386.2:p.Thr94LeufsTer?
ENST00000357749.6:c.280del	ENSP00000350386.2:p.Thr94LeufsTer?
ENST00000467744.2:n.126+48690del
ENST00000487515.1:n.164del
ENST00000615443.1:c.280del	ENSP00000484306.1:p.Thr94LeufsTer20
NM_000390.2:c.280del , LRG_699t1:c.280del	NP_000381.1:p.Thr94LeufsTer?
NM_001145414.2:c.280del , LRG_699t2:c.280del	NP_001138886.1:p.Thr94LeufsTer20
XM_006724615.2:c.217del	XP_006724678.1:p.Thr73LeufsTer?
XM_011530839.1:c.-165del	XP_011529141.1:n.-165del
NM_000390.3:c.280del	NP_000381.1:p.Thr94LeufsTer?
NM_001145414.3:c.280del	NP_001138886.1:p.Thr94LeufsTer20
NM_001320959.1:c.-165del	NP_001307888.1:n.-165del
NM_001362517.1:c.-165del	NP_001349446.1:n.-165del
NM_001362518.1:c.-161del	NP_001349447.1:n.-161del
NM_001362519.1:c.-161del	NP_001349448.1:n.-161del
XM_017029242.2:c.280del	XP_016884731.1:p.Thr94LeufsTer?
XM_017029246.1:c.-161del	XP_016884735.1:n.-161del
XM_024452331.1:c.-165del	XP_024308099.1:n.-165del
NM_000390.4:c.280del MANE Select	NP_000381.1:p.Thr94LeufsTer?
NM_001145414.4:c.280del	NP_001138886.1:p.Thr94LeufsTer20
NM_001362518.2:c.-161del	NP_001349447.1:n.-161del