Canonical Allele Identifier: CA2695235284

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963996del , CM000685.2:g.85963996del	GRCh38
NC_000023.10:g.85219001del , CM000685.1:g.85219001del	GRCh37
NC_000023.9:g.85105657del	NCBI36
NG_009874.2:g.88568del , LRG_699:g.88568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.372del MANE Select	ENSP00000350386.2:p.Val125Ter
ENST00000357749.6:c.372del	ENSP00000350386.2:p.Val125Ter
ENST00000467744.2:n.126+63496del
NM_000390.2:c.372del , LRG_699t1:c.372del	NP_000381.1:p.Val125Ter
XM_006724615.2:c.309del	XP_006724678.1:p.Val104Ter
XM_011530839.1:c.-73del	XP_011529141.1:n.-73del
NM_000390.3:c.372del	NP_000381.1:p.Val125Ter
NM_001320959.1:c.-73del	NP_001307888.1:n.-73del
NM_001362517.1:c.-73del	NP_001349446.1:n.-73del
NM_001362518.1:c.-73del	NP_001349447.1:n.-73del
NM_001362519.1:c.-73del	NP_001349448.1:n.-73del
XM_017029242.2:c.372del	XP_016884731.1:p.Val125Ter
XM_017029246.1:c.-73del	XP_016884735.1:n.-73del
XM_024452331.1:c.-73del	XP_024308099.1:n.-73del
NM_000390.4:c.372del MANE Select	NP_000381.1:p.Val125Ter
NM_001362518.2:c.-73del	NP_001349447.1:n.-73del