Canonical Allele Identifier: CA642997668

Gene: CHM

Linked Data

• dbSNP Id: rs1171174423
• gnomAD v2: X-85214234-C-CCAT
• gnomAD v3: X-85959229-C-CCAT
• gnomAD v4: X-85959229-C-CCAT
• MyVariant Identifiers: chrX:g.85214234_85214235insCAT (hg19) ; chrX:g.85959229_85959230insCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85959229_85959230insCAT , CM000685.2:g.85959229_85959230insCAT	GRCh38
NC_000023.10:g.85214234_85214235insCAT , CM000685.1:g.85214234_85214235insCAT	GRCh37
NC_000023.9:g.85100890_85100891insCAT	NCBI36
NG_009874.2:g.93333_93334insATG , LRG_699:g.93333_93334insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.703-253_703-252insATG MANE Select	ENSP00000350386.2:n.703-253_703-252insATG
ENST00000357749.6:c.703-253_703-252insATG	ENSP00000350386.2:n.703-253_703-252insATG
ENST00000467744.2:n.126+68261_126+68262insATG
NM_000390.2:c.703-253_703-252insATG , LRG_699t1:c.703-253_703-252insATG	NP_000381.1:n.703-253_703-252insATG
XM_006724615.2:c.640-253_640-252insATG	XP_006724678.1:n.640-253_640-252insATG
XM_011530839.1:c.259-253_259-252insATG	XP_011529141.1:n.259-253_259-252insATG
NM_000390.3:c.703-253_703-252insATG	NP_000381.1:n.703-253_703-252insATG
NM_001320959.1:c.259-253_259-252insATG	NP_001307888.1:n.259-253_259-252insATG
NM_001362517.1:c.259-253_259-252insATG	NP_001349446.1:n.259-253_259-252insATG
NM_001362518.1:c.259-253_259-252insATG	NP_001349447.1:n.259-253_259-252insATG
NM_001362519.1:c.259-253_259-252insATG	NP_001349448.1:n.259-253_259-252insATG
XM_017029242.2:c.703-253_703-252insATG	XP_016884731.1:n.703-253_703-252insATG
XM_017029246.1:c.259-253_259-252insATG	XP_016884735.1:n.259-253_259-252insATG
XM_024452331.1:c.259-253_259-252insATG	XP_024308099.1:n.259-253_259-252insATG
NM_000390.4:c.703-253_703-252insATG MANE Select	NP_000381.1:n.703-253_703-252insATG
NM_001362518.2:c.259-253_259-252insATG	NP_001349447.1:n.259-253_259-252insATG