Canonical Allele Identifier: CA642988102

Gene: CHM

Linked Data

• dbSNP Id: rs1365546299
• gnomAD v2: X-85134115-TTACTTA-T
• gnomAD v4: X-85879110-TTACTTA-T
• MyVariant Identifiers: chrX:g.85134116_85134121del (hg19) ; chrX:g.85879111_85879116del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85879117_85879122del , CM000685.2:g.85879117_85879122del	GRCh38
NC_000023.10:g.85134122_85134127del , CM000685.1:g.85134122_85134127del	GRCh37
NC_000023.9:g.85020778_85020783del	NCBI36
NG_009874.2:g.173447_173452del , LRG_699:g.173447_173452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1511-53_1511-48del MANE Select	ENSP00000350386.2:n.1511-53_1511-48del
ENST00000357749.6:c.1511-53_1511-48del	ENSP00000350386.2:n.1511-53_1511-48del
ENST00000467744.2:n.127-16022_127-16017del
NM_000390.2:c.1511-53_1511-48del , LRG_699t1:c.1511-53_1511-48del	NP_000381.1:n.1511-53_1511-48del
XM_006724615.2:c.1448-53_1448-48del	XP_006724678.1:n.1448-53_1448-48del
XM_011530839.1:c.1067-53_1067-48del	XP_011529141.1:n.1067-53_1067-48del
NM_000390.3:c.1511-53_1511-48del	NP_000381.1:n.1511-53_1511-48del
NM_001320959.1:c.1067-53_1067-48del	NP_001307888.1:n.1067-53_1067-48del
NM_001362517.1:c.1067-53_1067-48del	NP_001349446.1:n.1067-53_1067-48del
NM_001362518.1:c.1067-53_1067-48del	NP_001349447.1:n.1067-53_1067-48del
NM_001362519.1:c.1067-53_1067-48del	NP_001349448.1:n.1067-53_1067-48del
XM_017029242.2:c.1511-53_1511-48del	XP_016884731.1:n.1511-53_1511-48del
XM_017029246.1:c.1067-53_1067-48del	XP_016884735.1:n.1067-53_1067-48del
XM_024452331.1:c.1067-53_1067-48del	XP_024308099.1:n.1067-53_1067-48del
NM_000390.4:c.1511-53_1511-48del MANE Select	NP_000381.1:n.1511-53_1511-48del
NM_001362518.2:c.1067-53_1067-48del	NP_001349447.1:n.1067-53_1067-48del