Canonical Allele Identifier: CA1139667680

Gene: CHM

Linked Data

• ClinVar Variation Id: 813167
• ClinVar RCV Id: RCV001199667
• dbSNP Id: rs1930428430

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963870_85963871dup , CM000685.2:g.85963870_85963871dup	GRCh38
NC_000023.10:g.85218875_85218876dup , CM000685.1:g.85218875_85218876dup	GRCh37
NC_000023.9:g.85105531_85105532dup	NCBI36
NG_009874.2:g.88694_88695dup , LRG_699:g.88694_88695dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.498_499dup MANE Select	ENSP00000350386.2:p.Leu167ArgfsTer2
ENST00000357749.6:c.498_499dup	ENSP00000350386.2:p.Leu167ArgfsTer2
ENST00000467744.2:n.126+63622_126+63623dup
NM_000390.2:c.498_499dup , LRG_699t1:c.498_499dup	NP_000381.1:p.Leu167ArgfsTer2
XM_006724615.2:c.435_436dup	XP_006724678.1:p.Leu146ArgfsTer2
XM_011530839.1:c.54_55dup	XP_011529141.1:p.Leu19ArgfsTer2
NM_000390.3:c.498_499dup	NP_000381.1:p.Leu167ArgfsTer2
NM_001320959.1:c.54_55dup	NP_001307888.1:p.Leu19ArgfsTer2
NM_001362517.1:c.54_55dup	NP_001349446.1:p.Leu19ArgfsTer2
NM_001362518.1:c.54_55dup	NP_001349447.1:p.Leu19ArgfsTer2
NM_001362519.1:c.54_55dup	NP_001349448.1:p.Leu19ArgfsTer2
XM_017029242.2:c.498_499dup	XP_016884731.1:p.Leu167ArgfsTer2
XM_017029246.1:c.54_55dup	XP_016884735.1:p.Leu19ArgfsTer2
XM_024452331.1:c.54_55dup	XP_024308099.1:p.Leu19ArgfsTer2
NM_000390.4:c.498_499dup MANE Select	NP_000381.1:p.Leu167ArgfsTer2
NM_001362518.2:c.54_55dup	NP_001349447.1:p.Leu19ArgfsTer2