Canonical Allele Identifier: CA2695235266

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963720del , CM000685.2:g.85963720del	GRCh38
NC_000023.10:g.85218725del , CM000685.1:g.85218725del	GRCh37
NC_000023.9:g.85105381del	NCBI36
NG_009874.2:g.88843del , LRG_699:g.88843del

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.647del MANE Select	ENSP00000350386.2:p.Thr216IlefsTer16
ENST00000357749.6:c.647del	ENSP00000350386.2:p.Thr216IlefsTer16
ENST00000467744.2:n.126+63771del
NM_000390.2:c.647del , LRG_699t1:c.647del	NP_000381.1:p.Thr216IlefsTer16
XM_006724615.2:c.584del	XP_006724678.1:p.Thr195IlefsTer16
XM_011530839.1:c.203del	XP_011529141.1:p.Thr68IlefsTer16
NM_000390.3:c.647del	NP_000381.1:p.Thr216IlefsTer16
NM_001320959.1:c.203del	NP_001307888.1:p.Thr68IlefsTer16
NM_001362517.1:c.203del	NP_001349446.1:p.Thr68IlefsTer16
NM_001362518.1:c.203del	NP_001349447.1:p.Thr68IlefsTer16
NM_001362519.1:c.203del	NP_001349448.1:p.Thr68IlefsTer16
XM_017029242.2:c.647del	XP_016884731.1:p.Thr216IlefsTer16
XM_017029246.1:c.203del	XP_016884735.1:p.Thr68IlefsTer16
XM_024452331.1:c.203del	XP_024308099.1:p.Thr68IlefsTer16
NM_000390.4:c.647del MANE Select	NP_000381.1:p.Thr216IlefsTer16
NM_001362518.2:c.203del	NP_001349447.1:p.Thr68IlefsTer16