Canonical Allele Identifier: CA2739290563

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963964_85963965del , CM000685.2:g.85963964_85963965del	GRCh38
NC_000023.10:g.85218969_85218970del , CM000685.1:g.85218969_85218970del	GRCh37
NC_000023.9:g.85105625_85105626del	NCBI36
NG_009874.2:g.88599_88600del , LRG_699:g.88599_88600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.403_404del MANE Select	ENSP00000350386.2:p.Asp135PhefsTer9
ENST00000357749.6:c.403_404del	ENSP00000350386.2:p.Asp135PhefsTer9
ENST00000467744.2:n.126+63527_126+63528del
NM_000390.2:c.403_404del , LRG_699t1:c.403_404del	NP_000381.1:p.Asp135PhefsTer9
XM_006724615.2:c.340_341del	XP_006724678.1:p.Asp114PhefsTer9
XM_011530839.1:c.-42_-41del	XP_011529141.1:n.-42_-41del
NM_000390.3:c.403_404del	NP_000381.1:p.Asp135PhefsTer9
NM_001320959.1:c.-42_-41del	NP_001307888.1:n.-42_-41del
NM_001362517.1:c.-42_-41del	NP_001349446.1:n.-42_-41del
NM_001362518.1:c.-42_-41del	NP_001349447.1:n.-42_-41del
NM_001362519.1:c.-42_-41del	NP_001349448.1:n.-42_-41del
XM_017029242.2:c.403_404del	XP_016884731.1:p.Asp135PhefsTer9
XM_017029246.1:c.-42_-41del	XP_016884735.1:n.-42_-41del
XM_024452331.1:c.-42_-41del	XP_024308099.1:n.-42_-41del
NM_000390.4:c.403_404del MANE Select	NP_000381.1:p.Asp135PhefsTer9
NM_001362518.2:c.-42_-41del	NP_001349447.1:n.-42_-41del