Canonical Allele Identifier: CA10465348

Gene: CHM

Linked Data

• dbSNP Id: rs749969937
• ExAC: X:85133945 ATG / A
• gnomAD v2: X-85133945-ATG-A
• gnomAD v3: X-85878940-ATG-A
• gnomAD v4: X-85878940-ATG-A
• MyVariant Identifiers: chrX:g.85133946_85133947del (hg19) ; chrX:g.85878941_85878942del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85878941_85878942del , CM000685.2:g.85878941_85878942del	GRCh38
NC_000023.10:g.85133946_85133947del , CM000685.1:g.85133946_85133947del	GRCh37
NC_000023.9:g.85020602_85020603del	NCBI36
NG_009874.2:g.173621_173622del , LRG_699:g.173621_173622del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1609+23_1609+24del MANE Select	ENSP00000350386.2:n.1609+23_1609+24del
ENST00000357749.6:c.1609+23_1609+24del	ENSP00000350386.2:n.1609+23_1609+24del
ENST00000467744.2:n.127-15848_127-15847del
NM_000390.2:c.1609+23_1609+24del , LRG_699t1:c.1609+23_1609+24del	NP_000381.1:n.1609+23_1609+24del
XM_006724615.2:c.1546+23_1546+24del	XP_006724678.1:n.1546+23_1546+24del
XM_011530839.1:c.1165+23_1165+24del	XP_011529141.1:n.1165+23_1165+24del
NM_000390.3:c.1609+23_1609+24del	NP_000381.1:n.1609+23_1609+24del
NM_001320959.1:c.1165+23_1165+24del	NP_001307888.1:n.1165+23_1165+24del
NM_001362517.1:c.1165+23_1165+24del	NP_001349446.1:n.1165+23_1165+24del
NM_001362518.1:c.1165+23_1165+24del	NP_001349447.1:n.1165+23_1165+24del
NM_001362519.1:c.1165+23_1165+24del	NP_001349448.1:n.1165+23_1165+24del
XM_017029242.2:c.1609+23_1609+24del	XP_016884731.1:n.1609+23_1609+24del
XM_017029246.1:c.1165+23_1165+24del	XP_016884735.1:n.1165+23_1165+24del
XM_024452331.1:c.1165+23_1165+24del	XP_024308099.1:n.1165+23_1165+24del
NM_000390.4:c.1609+23_1609+24del MANE Select	NP_000381.1:n.1609+23_1609+24del
NM_001362518.2:c.1165+23_1165+24del	NP_001349447.1:n.1165+23_1165+24del