Canonical Allele Identifier: CA1139532802

Gene: CHM

Linked Data

• ClinVar Variation Id: 1806322
• ClinVar RCV Id: RCV002470606

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85956319_85956320insA , CM000685.2:g.85956319_85956320insA	GRCh38
NC_000023.10:g.85211324_85211325insA , CM000685.1:g.85211324_85211325insA	GRCh37
NC_000023.9:g.85097980_85097981insA	NCBI36
NG_009874.2:g.96243_96244insT , LRG_699:g.96243_96244insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.999_1000insT MANE Select	ENSP00000350386.2:p.Gln334SerfsTer?
ENST00000357749.6:c.999_1000insT	ENSP00000350386.2:p.Gln334SerfsTer?
ENST00000467744.2:n.126+71171_126+71172insT
NM_000390.2:c.999_1000insT , LRG_699t1:c.999_1000insT	NP_000381.1:p.Gln334SerfsTer?
XM_006724615.2:c.936_937insT	XP_006724678.1:p.Gln313SerfsTer?
XM_011530839.1:c.555_556insT	XP_011529141.1:p.Gln186SerfsTer?
NM_000390.3:c.999_1000insT	NP_000381.1:p.Gln334SerfsTer?
NM_001320959.1:c.555_556insT	NP_001307888.1:p.Gln186SerfsTer?
NM_001362517.1:c.555_556insT	NP_001349446.1:p.Gln186SerfsTer?
NM_001362518.1:c.555_556insT	NP_001349447.1:p.Gln186SerfsTer?
NM_001362519.1:c.555_556insT	NP_001349448.1:p.Gln186SerfsTer?
XM_017029242.2:c.999_1000insT	XP_016884731.1:p.Gln334SerfsTer?
XM_017029246.1:c.555_556insT	XP_016884735.1:p.Gln186SerfsTer?
XM_024452331.1:c.555_556insT	XP_024308099.1:p.Gln186SerfsTer?
NM_000390.4:c.999_1000insT MANE Select	NP_000381.1:p.Gln334SerfsTer?
NM_001362518.2:c.555_556insT	NP_001349447.1:p.Gln186SerfsTer?