Canonical Allele Identifier: CA2695235269

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963754_85963755del , CM000685.2:g.85963754_85963755del	GRCh38
NC_000023.10:g.85218759_85218760del , CM000685.1:g.85218759_85218760del	GRCh37
NC_000023.9:g.85105415_85105416del	NCBI36
NG_009874.2:g.88809_88810del , LRG_699:g.88809_88810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.613_614del MANE Select	ENSP00000350386.2:p.Asp205TyrfsTer17
ENST00000357749.6:c.613_614del	ENSP00000350386.2:p.Asp205TyrfsTer17
ENST00000467744.2:n.126+63737_126+63738del
NM_000390.2:c.613_614del , LRG_699t1:c.613_614del	NP_000381.1:p.Asp205TyrfsTer17
XM_006724615.2:c.550_551del	XP_006724678.1:p.Asp184TyrfsTer17
XM_011530839.1:c.169_170del	XP_011529141.1:p.Asp57TyrfsTer17
NM_000390.3:c.613_614del	NP_000381.1:p.Asp205TyrfsTer17
NM_001320959.1:c.169_170del	NP_001307888.1:p.Asp57TyrfsTer17
NM_001362517.1:c.169_170del	NP_001349446.1:p.Asp57TyrfsTer17
NM_001362518.1:c.169_170del	NP_001349447.1:p.Asp57TyrfsTer17
NM_001362519.1:c.169_170del	NP_001349448.1:p.Asp57TyrfsTer17
XM_017029242.2:c.613_614del	XP_016884731.1:p.Asp205TyrfsTer17
XM_017029246.1:c.169_170del	XP_016884735.1:p.Asp57TyrfsTer17
XM_024452331.1:c.169_170del	XP_024308099.1:p.Asp57TyrfsTer17
NM_000390.4:c.613_614del MANE Select	NP_000381.1:p.Asp205TyrfsTer17
NM_001362518.2:c.169_170del	NP_001349447.1:p.Asp57TyrfsTer17