Canonical Allele Identifier: CA10465520

Gene: CHM

Linked Data

• dbSNP Id: rs367785780
• ExAC: X:85213835 GCCCAGT / G
• gnomAD v2: X-85213835-GCCCAGT-G
• gnomAD v3: X-85958830-GCCCAGT-G
• gnomAD v4: X-85958830-GCCCAGT-G
• MyVariant Identifiers: chrX:g.85213836_85213841del (hg19) ; chrX:g.85958831_85958836del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85958831_85958836del , CM000685.2:g.85958831_85958836del	GRCh38
NC_000023.10:g.85213836_85213841del , CM000685.1:g.85213836_85213841del	GRCh37
NC_000023.9:g.85100492_85100497del	NCBI36
NG_009874.2:g.93727_93732del , LRG_699:g.93727_93732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.819+25_819+30del MANE Select	ENSP00000350386.2:n.819+25_819+30del
ENST00000357749.6:c.819+25_819+30del	ENSP00000350386.2:n.819+25_819+30del
ENST00000467744.2:n.126+68655_126+68660del
NM_000390.2:c.819+25_819+30del , LRG_699t1:c.819+25_819+30del	NP_000381.1:n.819+25_819+30del
XM_006724615.2:c.756+25_756+30del	XP_006724678.1:n.756+25_756+30del
XM_011530839.1:c.375+25_375+30del	XP_011529141.1:n.375+25_375+30del
NM_000390.3:c.819+25_819+30del	NP_000381.1:n.819+25_819+30del
NM_001320959.1:c.375+25_375+30del	NP_001307888.1:n.375+25_375+30del
NM_001362517.1:c.375+25_375+30del	NP_001349446.1:n.375+25_375+30del
NM_001362518.1:c.375+25_375+30del	NP_001349447.1:n.375+25_375+30del
NM_001362519.1:c.375+25_375+30del	NP_001349448.1:n.375+25_375+30del
XM_017029242.2:c.819+25_819+30del	XP_016884731.1:n.819+25_819+30del
XM_017029246.1:c.375+25_375+30del	XP_016884735.1:n.375+25_375+30del
XM_024452331.1:c.375+25_375+30del	XP_024308099.1:n.375+25_375+30del
NM_000390.4:c.819+25_819+30del MANE Select	NP_000381.1:n.819+25_819+30del
NM_001362518.2:c.375+25_375+30del	NP_001349447.1:n.375+25_375+30del