Canonical Allele Identifier: CA1139532321

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963832_85963835del , CM000685.2:g.85963832_85963835del	GRCh38
NC_000023.10:g.85218837_85218840del , CM000685.1:g.85218837_85218840del	GRCh37
NC_000023.9:g.85105493_85105496del	NCBI36
NG_009874.2:g.88731_88734del , LRG_699:g.88731_88734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.535_538del MANE Select	ENSP00000350386.2:p.Glu179ThrfsTer17
ENST00000357749.6:c.535_538del	ENSP00000350386.2:p.Glu179ThrfsTer17
ENST00000467744.2:n.126+63659_126+63662del
NM_000390.2:c.535_538del , LRG_699t1:c.535_538del	NP_000381.1:p.Glu179ThrfsTer17
XM_006724615.2:c.472_475del	XP_006724678.1:p.Glu158ThrfsTer17
XM_011530839.1:c.91_94del	XP_011529141.1:p.Glu31ThrfsTer17
NM_000390.3:c.535_538del	NP_000381.1:p.Glu179ThrfsTer17
NM_001320959.1:c.91_94del	NP_001307888.1:p.Glu31ThrfsTer17
NM_001362517.1:c.91_94del	NP_001349446.1:p.Glu31ThrfsTer17
NM_001362518.1:c.91_94del	NP_001349447.1:p.Glu31ThrfsTer17
NM_001362519.1:c.91_94del	NP_001349448.1:p.Glu31ThrfsTer17
XM_017029242.2:c.535_538del	XP_016884731.1:p.Glu179ThrfsTer17
XM_017029246.1:c.91_94del	XP_016884735.1:p.Glu31ThrfsTer17
XM_024452331.1:c.91_94del	XP_024308099.1:p.Glu31ThrfsTer17
NM_000390.4:c.535_538del MANE Select	NP_000381.1:p.Glu179ThrfsTer17
NM_001362518.2:c.91_94del	NP_001349447.1:p.Glu31ThrfsTer17