Canonical Allele Identifier: CA2499226900

Gene: CHM

Linked Data

• ClinVar Variation Id: 1072041
• ClinVar RCV Id: RCV001384659
• dbSNP Id: rs2147663011

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85956206_85956207del , CM000685.2:g.85956206_85956207del	GRCh38
NC_000023.10:g.85211211_85211212del , CM000685.1:g.85211211_85211212del	GRCh37
NC_000023.9:g.85097867_85097868del	NCBI36
NG_009874.2:g.96357_96358del , LRG_699:g.96357_96358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1113_1114del MANE Select	ENSP00000350386.2:p.Pro372IlefsTer?
ENST00000357749.6:c.1113_1114del	ENSP00000350386.2:p.Pro372IlefsTer?
ENST00000467744.2:n.126+71285_126+71286del
NM_000390.2:c.1113_1114del , LRG_699t1:c.1113_1114del	NP_000381.1:p.Pro372IlefsTer?
XM_006724615.2:c.1050_1051del	XP_006724678.1:p.Pro351IlefsTer?
XM_011530839.1:c.669_670del	XP_011529141.1:p.Pro224IlefsTer?
NM_000390.3:c.1113_1114del	NP_000381.1:p.Pro372IlefsTer?
NM_001320959.1:c.669_670del	NP_001307888.1:p.Pro224IlefsTer?
NM_001362517.1:c.669_670del	NP_001349446.1:p.Pro224IlefsTer?
NM_001362518.1:c.669_670del	NP_001349447.1:p.Pro224IlefsTer?
NM_001362519.1:c.669_670del	NP_001349448.1:p.Pro224IlefsTer?
XM_017029242.2:c.1113_1114del	XP_016884731.1:p.Pro372IlefsTer?
XM_017029246.1:c.669_670del	XP_016884735.1:p.Pro224IlefsTer?
XM_024452331.1:c.669_670del	XP_024308099.1:p.Pro224IlefsTer?
NM_000390.4:c.1113_1114del MANE Select	NP_000381.1:p.Pro372IlefsTer?
NM_001362518.2:c.669_670del	NP_001349447.1:p.Pro224IlefsTer?