Canonical Allele Identifier: CA2695234702

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85958970dup , CM000685.2:g.85958970dup	GRCh38
NC_000023.10:g.85213975dup , CM000685.1:g.85213975dup	GRCh37
NC_000023.9:g.85100631dup	NCBI36
NG_009874.2:g.93593dup , LRG_699:g.93593dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.710dup MANE Select	ENSP00000350386.2:p.Tyr237Ter
ENST00000357749.6:c.710dup	ENSP00000350386.2:p.Tyr237Ter
ENST00000467744.2:n.126+68521dup
NM_000390.2:c.710dup , LRG_699t1:c.710dup	NP_000381.1:p.Tyr237Ter
XM_006724615.2:c.647dup	XP_006724678.1:p.Tyr216Ter
XM_011530839.1:c.266dup	XP_011529141.1:p.Tyr89Ter
NM_000390.3:c.710dup	NP_000381.1:p.Tyr237Ter
NM_001320959.1:c.266dup	NP_001307888.1:p.Tyr89Ter
NM_001362517.1:c.266dup	NP_001349446.1:p.Tyr89Ter
NM_001362518.1:c.266dup	NP_001349447.1:p.Tyr89Ter
NM_001362519.1:c.266dup	NP_001349448.1:p.Tyr89Ter
XM_017029242.2:c.710dup	XP_016884731.1:p.Tyr237Ter
XM_017029246.1:c.266dup	XP_016884735.1:p.Tyr89Ter
XM_024452331.1:c.266dup	XP_024308099.1:p.Tyr89Ter
NM_000390.4:c.710dup MANE Select	NP_000381.1:p.Tyr237Ter
NM_001362518.2:c.266dup	NP_001349447.1:p.Tyr89Ter