Canonical Allele Identifier: CA2442479002

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85959237_85959241delinsCTTTG , CM000685.2:g.85959237_85959241delinsCTTTG	GRCh38
NC_000023.10:g.85214242_85214246delinsCTTTG , CM000685.1:g.85214242_85214246delinsCTTTG	GRCh37
NC_000023.9:g.85100898_85100902delinsCTTTG	NCBI36
NG_009874.2:g.93322_93326delinsCAAAG , LRG_699:g.93322_93326delinsCAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.703-264_703-260delinsCAAAG MANE Select	ENSP00000350386.2:n.703-264_703-260delinsCAAAG
ENST00000357749.6:c.703-264_703-260delinsCAAAG	ENSP00000350386.2:n.703-264_703-260delinsCAAAG
ENST00000467744.2:n.126+68250_126+68254delinsCAAAG
NM_000390.2:c.703-264_703-260delinsCAAAG , LRG_699t1:c.703-264_703-260delinsCAAAG	NP_000381.1:n.703-264_703-260delinsCAAAG
XM_006724615.2:c.640-264_640-260delinsCAAAG	XP_006724678.1:n.640-264_640-260delinsCAAAG
XM_011530839.1:c.259-264_259-260delinsCAAAG	XP_011529141.1:n.259-264_259-260delinsCAAAG
NM_000390.3:c.703-264_703-260delinsCAAAG	NP_000381.1:n.703-264_703-260delinsCAAAG
NM_001320959.1:c.259-264_259-260delinsCAAAG	NP_001307888.1:n.259-264_259-260delinsCAAAG
NM_001362517.1:c.259-264_259-260delinsCAAAG	NP_001349446.1:n.259-264_259-260delinsCAAAG
NM_001362518.1:c.259-264_259-260delinsCAAAG	NP_001349447.1:n.259-264_259-260delinsCAAAG
NM_001362519.1:c.259-264_259-260delinsCAAAG	NP_001349448.1:n.259-264_259-260delinsCAAAG
XM_017029242.2:c.703-264_703-260delinsCAAAG	XP_016884731.1:n.703-264_703-260delinsCAAAG
XM_017029246.1:c.259-264_259-260delinsCAAAG	XP_016884735.1:n.259-264_259-260delinsCAAAG
XM_024452331.1:c.259-264_259-260delinsCAAAG	XP_024308099.1:n.259-264_259-260delinsCAAAG
NM_000390.4:c.703-264_703-260delinsCAAAG MANE Select	NP_000381.1:n.703-264_703-260delinsCAAAG
NM_001362518.2:c.259-264_259-260delinsCAAAG	NP_001349447.1:n.259-264_259-260delinsCAAAG