Canonical Allele Identifier: CA1139667678

Gene: CHM

Linked Data

• ClinVar Variation Id: 871862
• ClinVar RCV Id: RCV001092049
• dbSNP Id: rs1930416163

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963723del , CM000685.2:g.85963723del	GRCh38
NC_000023.10:g.85218728del , CM000685.1:g.85218728del	GRCh37
NC_000023.9:g.85105384del	NCBI36
NG_009874.2:g.88841del , LRG_699:g.88841del

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.645del MANE Select	ENSP00000350386.2:p.Thr216LeufsTer16
ENST00000357749.6:c.645del	ENSP00000350386.2:p.Thr216LeufsTer16
ENST00000467744.2:n.126+63769del
NM_000390.2:c.645del , LRG_699t1:c.645del	NP_000381.1:p.Thr216LeufsTer16
XM_006724615.2:c.582del	XP_006724678.1:p.Thr195LeufsTer16
XM_011530839.1:c.201del	XP_011529141.1:p.Thr68LeufsTer16
NM_000390.3:c.645del	NP_000381.1:p.Thr216LeufsTer16
NM_001320959.1:c.201del	NP_001307888.1:p.Thr68LeufsTer16
NM_001362517.1:c.201del	NP_001349446.1:p.Thr68LeufsTer16
NM_001362518.1:c.201del	NP_001349447.1:p.Thr68LeufsTer16
NM_001362519.1:c.201del	NP_001349448.1:p.Thr68LeufsTer16
XM_017029242.2:c.645del	XP_016884731.1:p.Thr216LeufsTer16
XM_017029246.1:c.201del	XP_016884735.1:p.Thr68LeufsTer16
XM_024452331.1:c.201del	XP_024308099.1:p.Thr68LeufsTer16
NM_000390.4:c.645del MANE Select	NP_000381.1:p.Thr216LeufsTer16
NM_001362518.2:c.201del	NP_001349447.1:p.Thr68LeufsTer16