Canonical Allele Identifier: CA10465349

Gene: CHM

Linked Data

• dbSNP Id: rs755728890
• ExAC: X:85133948 A / ATT
• gnomAD v2: X-85133948-A-ATT
• gnomAD v3: X-85878943-A-ATT
• gnomAD v4: X-85878943-A-ATT
• MyVariant Identifiers: chrX:g.85133948_85133949insTT (hg19) ; chrX:g.85878943_85878944insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85878943_85878944insTT , CM000685.2:g.85878943_85878944insTT	GRCh38
NC_000023.10:g.85133948_85133949insTT , CM000685.1:g.85133948_85133949insTT	GRCh37
NC_000023.9:g.85020604_85020605insTT	NCBI36
NG_009874.2:g.173619_173620insAA , LRG_699:g.173619_173620insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1609+21_1609+22insAA MANE Select	ENSP00000350386.2:n.1609+21_1609+22insAA
ENST00000357749.6:c.1609+21_1609+22insAA	ENSP00000350386.2:n.1609+21_1609+22insAA
ENST00000467744.2:n.127-15850_127-15849insAA
NM_000390.2:c.1609+21_1609+22insAA , LRG_699t1:c.1609+21_1609+22insAA	NP_000381.1:n.1609+21_1609+22insAA
XM_006724615.2:c.1546+21_1546+22insAA	XP_006724678.1:n.1546+21_1546+22insAA
XM_011530839.1:c.1165+21_1165+22insAA	XP_011529141.1:n.1165+21_1165+22insAA
NM_000390.3:c.1609+21_1609+22insAA	NP_000381.1:n.1609+21_1609+22insAA
NM_001320959.1:c.1165+21_1165+22insAA	NP_001307888.1:n.1165+21_1165+22insAA
NM_001362517.1:c.1165+21_1165+22insAA	NP_001349446.1:n.1165+21_1165+22insAA
NM_001362518.1:c.1165+21_1165+22insAA	NP_001349447.1:n.1165+21_1165+22insAA
NM_001362519.1:c.1165+21_1165+22insAA	NP_001349448.1:n.1165+21_1165+22insAA
XM_017029242.2:c.1609+21_1609+22insAA	XP_016884731.1:n.1609+21_1609+22insAA
XM_017029246.1:c.1165+21_1165+22insAA	XP_016884735.1:n.1165+21_1165+22insAA
XM_024452331.1:c.1165+21_1165+22insAA	XP_024308099.1:n.1165+21_1165+22insAA
NM_000390.4:c.1609+21_1609+22insAA MANE Select	NP_000381.1:n.1609+21_1609+22insAA
NM_001362518.2:c.1165+21_1165+22insAA	NP_001349447.1:n.1165+21_1165+22insAA