Canonical Allele Identifier: CA2573159651

Gene: CHM

Linked Data

• ClinVar Variation Id: 1691447
• ClinVar RCV Id: RCV002254535
• dbSNP Id: rs2147676302

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963977_85963999dup , CM000685.2:g.85963977_85963999dup	GRCh38
NC_000023.10:g.85218982_85219004dup , CM000685.1:g.85218982_85219004dup	GRCh37
NC_000023.9:g.85105638_85105660dup	NCBI36
NG_009874.2:g.88564_88586dup , LRG_699:g.88564_88586dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.368_390dup MANE Select	ENSP00000350386.2:p.Thr131LeufsTer3
ENST00000357749.6:c.368_390dup	ENSP00000350386.2:p.Thr131LeufsTer3
ENST00000467744.2:n.126+63492_126+63514dup
NM_000390.2:c.368_390dup , LRG_699t1:c.368_390dup	NP_000381.1:p.Thr131LeufsTer3
XM_006724615.2:c.305_327dup	XP_006724678.1:p.Thr110LeufsTer3
XM_011530839.1:c.-77_-55dup	XP_011529141.1:n.-77_-55dup
NM_000390.3:c.368_390dup	NP_000381.1:p.Thr131LeufsTer3
NM_001320959.1:c.-77_-55dup	NP_001307888.1:n.-77_-55dup
NM_001362517.1:c.-77_-55dup	NP_001349446.1:n.-77_-55dup
NM_001362518.1:c.-77_-55dup	NP_001349447.1:n.-77_-55dup
NM_001362519.1:c.-77_-55dup	NP_001349448.1:n.-77_-55dup
XM_017029242.2:c.368_390dup	XP_016884731.1:p.Thr131LeufsTer3
XM_017029246.1:c.-77_-55dup	XP_016884735.1:n.-77_-55dup
XM_024452331.1:c.-77_-55dup	XP_024308099.1:n.-77_-55dup
NM_000390.4:c.368_390dup MANE Select	NP_000381.1:p.Thr131LeufsTer3
NM_001362518.2:c.-77_-55dup	NP_001349447.1:n.-77_-55dup