Canonical Allele Identifier: CA2695234659

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85879062del , CM000685.2:g.85879062del	GRCh38
NC_000023.10:g.85134067del , CM000685.1:g.85134067del	GRCh37
NC_000023.9:g.85020723del	NCBI36
NG_009874.2:g.173503del , LRG_699:g.173503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1514del MANE Select	ENSP00000350386.2:p.Leu505TrpfsTer4
ENST00000357749.6:c.1514del	ENSP00000350386.2:p.Leu505TrpfsTer4
ENST00000467744.2:n.127-15966del
NM_000390.2:c.1514del , LRG_699t1:c.1514del	NP_000381.1:p.Leu505TrpfsTer4
XM_006724615.2:c.1451del	XP_006724678.1:p.Leu484TrpfsTer4
XM_011530839.1:c.1070del	XP_011529141.1:p.Leu357TrpfsTer4
NM_000390.3:c.1514del	NP_000381.1:p.Leu505TrpfsTer4
NM_001320959.1:c.1070del	NP_001307888.1:p.Leu357TrpfsTer4
NM_001362517.1:c.1070del	NP_001349446.1:p.Leu357TrpfsTer4
NM_001362518.1:c.1070del	NP_001349447.1:p.Leu357TrpfsTer4
NM_001362519.1:c.1070del	NP_001349448.1:p.Leu357TrpfsTer4
XM_017029242.2:c.1514del	XP_016884731.1:p.Leu505TrpfsTer4
XM_017029246.1:c.1070del	XP_016884735.1:p.Leu357TrpfsTer4
XM_024452331.1:c.1070del	XP_024308099.1:p.Leu357TrpfsTer4
NM_000390.4:c.1514del MANE Select	NP_000381.1:p.Leu505TrpfsTer4
NM_001362518.2:c.1070del	NP_001349447.1:p.Leu357TrpfsTer4