Canonical Allele Identifier: CA2499226908

Gene: CHM

Linked Data

• ClinVar Variation Id: 1299200
• ClinVar RCV Id: RCV001725825
• dbSNP Id: rs1603264410

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963708dup , CM000685.2:g.85963708dup	GRCh38
NC_000023.10:g.85218713dup , CM000685.1:g.85218713dup	GRCh37
NC_000023.9:g.85105369dup	NCBI36
NG_009874.2:g.88856dup , LRG_699:g.88856dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.660dup MANE Select	ENSP00000350386.2:p.Ile221TyrfsTer2
ENST00000357749.6:c.660dup	ENSP00000350386.2:p.Ile221TyrfsTer2
ENST00000467744.2:n.126+63784dup
NM_000390.2:c.660dup , LRG_699t1:c.660dup	NP_000381.1:p.Ile221TyrfsTer2
XM_006724615.2:c.597dup	XP_006724678.1:p.Ile200TyrfsTer2
XM_011530839.1:c.216dup	XP_011529141.1:p.Ile73TyrfsTer2
NM_000390.3:c.660dup	NP_000381.1:p.Ile221TyrfsTer2
NM_001320959.1:c.216dup	NP_001307888.1:p.Ile73TyrfsTer2
NM_001362517.1:c.216dup	NP_001349446.1:p.Ile73TyrfsTer2
NM_001362518.1:c.216dup	NP_001349447.1:p.Ile73TyrfsTer2
NM_001362519.1:c.216dup	NP_001349448.1:p.Ile73TyrfsTer2
XM_017029242.2:c.660dup	XP_016884731.1:p.Ile221TyrfsTer2
XM_017029246.1:c.216dup	XP_016884735.1:p.Ile73TyrfsTer2
XM_024452331.1:c.216dup	XP_024308099.1:p.Ile73TyrfsTer2
NM_000390.4:c.660dup MANE Select	NP_000381.1:p.Ile221TyrfsTer2
NM_001362518.2:c.216dup	NP_001349447.1:p.Ile73TyrfsTer2