Canonical Allele Identifier: CA2695234696

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85958921del , CM000685.2:g.85958921del	GRCh38
NC_000023.10:g.85213926del , CM000685.1:g.85213926del	GRCh37
NC_000023.9:g.85100582del	NCBI36
NG_009874.2:g.93642del , LRG_699:g.93642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.759del MANE Select	ENSP00000350386.2:p.Tyr254MetfsTer?
ENST00000357749.6:c.759del	ENSP00000350386.2:p.Tyr254MetfsTer?
ENST00000467744.2:n.126+68570del
NM_000390.2:c.759del , LRG_699t1:c.759del	NP_000381.1:p.Tyr254MetfsTer?
XM_006724615.2:c.696del	XP_006724678.1:p.Tyr233MetfsTer?
XM_011530839.1:c.315del	XP_011529141.1:p.Tyr106MetfsTer?
NM_000390.3:c.759del	NP_000381.1:p.Tyr254MetfsTer?
NM_001320959.1:c.315del	NP_001307888.1:p.Tyr106MetfsTer?
NM_001362517.1:c.315del	NP_001349446.1:p.Tyr106MetfsTer?
NM_001362518.1:c.315del	NP_001349447.1:p.Tyr106MetfsTer?
NM_001362519.1:c.315del	NP_001349448.1:p.Tyr106MetfsTer?
XM_017029242.2:c.759del	XP_016884731.1:p.Tyr254MetfsTer?
XM_017029246.1:c.315del	XP_016884735.1:p.Tyr106MetfsTer?
XM_024452331.1:c.315del	XP_024308099.1:p.Tyr106MetfsTer?
NM_000390.4:c.759del MANE Select	NP_000381.1:p.Tyr254MetfsTer?
NM_001362518.2:c.315del	NP_001349447.1:p.Tyr106MetfsTer?