Canonical Allele Identifier: CA2580102041

Gene: CHM

Linked Data

• ClinVar Variation Id: 2182432
• ClinVar RCV Id: RCV002610845

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85964016_85964017delinsCA , CM000685.2:g.85964016_85964017delinsCA	GRCh38
NC_000023.10:g.85219021_85219022delinsCA , CM000685.1:g.85219021_85219022delinsCA	GRCh37
NC_000023.9:g.85105677_85105678delinsCA	NCBI36
NG_009874.2:g.88546_88547delinsTG , LRG_699:g.88546_88547delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.350_351delinsTG MANE Select	ENSP00000350386.2:p.Ala117Val
ENST00000357749.6:c.350_351delinsTG	ENSP00000350386.2:p.Ala117Val
ENST00000467744.2:n.126+63474_126+63475delinsTG
NM_000390.2:c.350_351delinsTG , LRG_699t1:c.350_351delinsTG	NP_000381.1:p.Ala117Val
XM_006724615.2:c.287_288delinsTG	XP_006724678.1:p.Ala96Val
XM_011530839.1:c.-95_-94delinsTG	XP_011529141.1:n.-95_-94delinsTG
NM_000390.3:c.350_351delinsTG	NP_000381.1:p.Ala117Val
NM_001320959.1:c.-95_-94delinsTG	NP_001307888.1:n.-95_-94delinsTG
NM_001362517.1:c.-95_-94delinsTG	NP_001349446.1:n.-95_-94delinsTG
NM_001362518.1:c.-95_-94delinsTG	NP_001349447.1:n.-95_-94delinsTG
NM_001362519.1:c.-95_-94delinsTG	NP_001349448.1:n.-95_-94delinsTG
XM_017029242.2:c.350_351delinsTG	XP_016884731.1:p.Ala117Val
XM_017029246.1:c.-95_-94delinsTG	XP_016884735.1:n.-95_-94delinsTG
XM_024452331.1:c.-95_-94delinsTG	XP_024308099.1:n.-95_-94delinsTG
NM_000390.4:c.350_351delinsTG MANE Select	NP_000381.1:p.Ala117Val
NM_001362518.2:c.-95_-94delinsTG	NP_001349447.1:n.-95_-94delinsTG