Canonical Allele Identifier: CA2695234663

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85956155_85956158delinsAAA , CM000685.2:g.85956155_85956158delinsAAA	GRCh38
NC_000023.10:g.85211160_85211163delinsAAA , CM000685.1:g.85211160_85211163delinsAAA	GRCh37
NC_000023.9:g.85097816_85097819delinsAAA	NCBI36
NG_009874.2:g.96405_96408delinsTTT , LRG_699:g.96405_96408delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1161_1164delinsTTT MANE Select	ENSP00000350386.2:p.Cys388LeufsTer21
ENST00000357749.6:c.1161_1164delinsTTT	ENSP00000350386.2:p.Cys388LeufsTer21
ENST00000467744.2:n.126+71333_126+71336delinsTTT
NM_000390.2:c.1161_1164delinsTTT , LRG_699t1:c.1161_1164delinsTTT	NP_000381.1:p.Cys388LeufsTer21
XM_006724615.2:c.1098_1101delinsTTT	XP_006724678.1:p.Cys367LeufsTer21
XM_011530839.1:c.717_720delinsTTT	XP_011529141.1:p.Cys240LeufsTer21
NM_000390.3:c.1161_1164delinsTTT	NP_000381.1:p.Cys388LeufsTer21
NM_001320959.1:c.717_720delinsTTT	NP_001307888.1:p.Cys240LeufsTer21
NM_001362517.1:c.717_720delinsTTT	NP_001349446.1:p.Cys240LeufsTer21
NM_001362518.1:c.717_720delinsTTT	NP_001349447.1:p.Cys240LeufsTer21
NM_001362519.1:c.717_720delinsTTT	NP_001349448.1:p.Cys240LeufsTer21
XM_017029242.2:c.1161_1164delinsTTT	XP_016884731.1:p.Cys388LeufsTer21
XM_017029246.1:c.717_720delinsTTT	XP_016884735.1:p.Cys240LeufsTer21
XM_024452331.1:c.717_720delinsTTT	XP_024308099.1:p.Cys240LeufsTer21
NM_000390.4:c.1161_1164delinsTTT MANE Select	NP_000381.1:p.Cys388LeufsTer21
NM_001362518.2:c.717_720delinsTTT	NP_001349447.1:p.Cys240LeufsTer21