Canonical Allele Identifier: CA2697553227

Gene: CHM

Linked Data

• ClinVar Variation Id: 2733026
• ClinVar RCV Id: RCV003561971

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963832_85963833del , CM000685.2:g.85963832_85963833del	GRCh38
NC_000023.10:g.85218837_85218838del , CM000685.1:g.85218837_85218838del	GRCh37
NC_000023.9:g.85105493_85105494del	NCBI36
NG_009874.2:g.88731_88732del , LRG_699:g.88731_88732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.535_536del MANE Select	ENSP00000350386.2:p.Glu179LysfsTer4
ENST00000357749.6:c.535_536del	ENSP00000350386.2:p.Glu179LysfsTer4
ENST00000467744.2:n.126+63659_126+63660del
NM_000390.2:c.535_536del , LRG_699t1:c.535_536del	NP_000381.1:p.Glu179LysfsTer4
XM_006724615.2:c.472_473del	XP_006724678.1:p.Glu158LysfsTer4
XM_011530839.1:c.91_92del	XP_011529141.1:p.Glu31LysfsTer4
NM_000390.3:c.535_536del	NP_000381.1:p.Glu179LysfsTer4
NM_001320959.1:c.91_92del	NP_001307888.1:p.Glu31LysfsTer4
NM_001362517.1:c.91_92del	NP_001349446.1:p.Glu31LysfsTer4
NM_001362518.1:c.91_92del	NP_001349447.1:p.Glu31LysfsTer4
NM_001362519.1:c.91_92del	NP_001349448.1:p.Glu31LysfsTer4
XM_017029242.2:c.535_536del	XP_016884731.1:p.Glu179LysfsTer4
XM_017029246.1:c.91_92del	XP_016884735.1:p.Glu31LysfsTer4
XM_024452331.1:c.91_92del	XP_024308099.1:p.Glu31LysfsTer4
NM_000390.4:c.535_536del MANE Select	NP_000381.1:p.Glu179LysfsTer4
NM_001362518.2:c.91_92del	NP_001349447.1:p.Glu31LysfsTer4