Canonical Allele Identifier: CA879162811

Gene: CHM

Linked Data

• dbSNP Id: rs1272560810
• gnomAD v3: X-85958872-G-GTCCTTC
• gnomAD v4: X-85958872-G-GTCCTTC
• MyVariant Identifiers: chrX:g.85213877_85213878insTCCTTC (hg19) ; chrX:g.85958872_85958873insTCCTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85958875_85958880dup , CM000685.2:g.85958875_85958880dup	GRCh38
NC_000023.10:g.85213880_85213885dup , CM000685.1:g.85213880_85213885dup	GRCh37
NC_000023.9:g.85100536_85100541dup	NCBI36
NG_009874.2:g.93685_93690dup , LRG_699:g.93685_93690dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.802_807dup MANE Select	ENSP00000350386.2:p.Gly269_Arg270insGluGly
ENST00000357749.6:c.802_807dup	ENSP00000350386.2:p.Gly269_Arg270insGluGly
ENST00000467744.2:n.126+68613_126+68618dup
NM_000390.2:c.802_807dup , LRG_699t1:c.802_807dup	NP_000381.1:p.Gly269_Arg270insGluGly
XM_006724615.2:c.739_744dup	XP_006724678.1:p.Gly248_Arg249insGluGly
XM_011530839.1:c.358_363dup	XP_011529141.1:p.Gly121_Arg122insGluGly
NM_000390.3:c.802_807dup	NP_000381.1:p.Gly269_Arg270insGluGly
NM_001320959.1:c.358_363dup	NP_001307888.1:p.Gly121_Arg122insGluGly
NM_001362517.1:c.358_363dup	NP_001349446.1:p.Gly121_Arg122insGluGly
NM_001362518.1:c.358_363dup	NP_001349447.1:p.Gly121_Arg122insGluGly
NM_001362519.1:c.358_363dup	NP_001349448.1:p.Gly121_Arg122insGluGly
XM_017029242.2:c.802_807dup	XP_016884731.1:p.Gly269_Arg270insGluGly
XM_017029246.1:c.358_363dup	XP_016884735.1:p.Gly121_Arg122insGluGly
XM_024452331.1:c.358_363dup	XP_024308099.1:p.Gly121_Arg122insGluGly
NM_000390.4:c.802_807dup MANE Select	NP_000381.1:p.Gly269_Arg270insGluGly
NM_001362518.2:c.358_363dup	NP_001349447.1:p.Gly121_Arg122insGluGly