Canonical Allele Identifier: CA1139667682

Gene: CHM

Linked Data

• ClinVar Variation Id: 813164
• ClinVar RCV Id: RCV001199664
• dbSNP Id: rs1930439753

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963968_85963981delinsC , CM000685.2:g.85963968_85963981delinsC	GRCh38
NC_000023.10:g.85218973_85218986delinsC , CM000685.1:g.85218973_85218986delinsC	GRCh37
NC_000023.9:g.85105629_85105642delinsC	NCBI36
NG_009874.2:g.88582_88595delinsG , LRG_699:g.88582_88595delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.386_399delinsG MANE Select	ENSP00000350386.2:p.Asn129ArgfsTer14
ENST00000357749.6:c.386_399delinsG	ENSP00000350386.2:p.Asn129ArgfsTer14
ENST00000467744.2:n.126+63510_126+63523delinsG
NM_000390.2:c.386_399delinsG , LRG_699t1:c.386_399delinsG	NP_000381.1:p.Asn129ArgfsTer14
XM_006724615.2:c.323_336delinsG	XP_006724678.1:p.Asn108ArgfsTer14
XM_011530839.1:c.-59_-46delinsG	XP_011529141.1:n.-59_-46delinsG
NM_000390.3:c.386_399delinsG	NP_000381.1:p.Asn129ArgfsTer14
NM_001320959.1:c.-59_-46delinsG	NP_001307888.1:n.-59_-46delinsG
NM_001362517.1:c.-59_-46delinsG	NP_001349446.1:n.-59_-46delinsG
NM_001362518.1:c.-59_-46delinsG	NP_001349447.1:n.-59_-46delinsG
NM_001362519.1:c.-59_-46delinsG	NP_001349448.1:n.-59_-46delinsG
XM_017029242.2:c.386_399delinsG	XP_016884731.1:p.Asn129ArgfsTer14
XM_017029246.1:c.-59_-46delinsG	XP_016884735.1:n.-59_-46delinsG
XM_024452331.1:c.-59_-46delinsG	XP_024308099.1:n.-59_-46delinsG
NM_000390.4:c.386_399delinsG MANE Select	NP_000381.1:p.Asn129ArgfsTer14
NM_001362518.2:c.-59_-46delinsG	NP_001349447.1:n.-59_-46delinsG