Canonical Allele Identifier: CA642997652

Gene: CHM

Linked Data

• dbSNP Id: rs1207752286
• gnomAD v2: X-85214173-T-TGCA
• gnomAD v3: X-85959168-T-TGCA
• gnomAD v4: X-85959168-T-TGCA
• MyVariant Identifiers: chrX:g.85214173_85214174insGCA (hg19) ; chrX:g.85959168_85959169insGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85959169_85959171dup , CM000685.2:g.85959169_85959171dup	GRCh38
NC_000023.10:g.85214174_85214176dup , CM000685.1:g.85214174_85214176dup	GRCh37
NC_000023.9:g.85100830_85100832dup	NCBI36
NG_009874.2:g.93392_93394dup , LRG_699:g.93392_93394dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.703-194_703-192dup MANE Select	ENSP00000350386.2:n.703-194_703-192dup
ENST00000357749.6:c.703-194_703-192dup	ENSP00000350386.2:n.703-194_703-192dup
ENST00000467744.2:n.126+68320_126+68322dup
NM_000390.2:c.703-194_703-192dup , LRG_699t1:c.703-194_703-192dup	NP_000381.1:n.703-194_703-192dup
XM_006724615.2:c.640-194_640-192dup	XP_006724678.1:n.640-194_640-192dup
XM_011530839.1:c.259-194_259-192dup	XP_011529141.1:n.259-194_259-192dup
NM_000390.3:c.703-194_703-192dup	NP_000381.1:n.703-194_703-192dup
NM_001320959.1:c.259-194_259-192dup	NP_001307888.1:n.259-194_259-192dup
NM_001362517.1:c.259-194_259-192dup	NP_001349446.1:n.259-194_259-192dup
NM_001362518.1:c.259-194_259-192dup	NP_001349447.1:n.259-194_259-192dup
NM_001362519.1:c.259-194_259-192dup	NP_001349448.1:n.259-194_259-192dup
XM_017029242.2:c.703-194_703-192dup	XP_016884731.1:n.703-194_703-192dup
XM_017029246.1:c.259-194_259-192dup	XP_016884735.1:n.259-194_259-192dup
XM_024452331.1:c.259-194_259-192dup	XP_024308099.1:n.259-194_259-192dup
NM_000390.4:c.703-194_703-192dup MANE Select	NP_000381.1:n.703-194_703-192dup
NM_001362518.2:c.259-194_259-192dup	NP_001349447.1:n.259-194_259-192dup