Canonical Allele Identifier: CA2442451032

Gene: CHM

Linked Data

• dbSNP Id: rs1924593544

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85879021_85879023del , CM000685.2:g.85879021_85879023del	GRCh38
NC_000023.10:g.85134026_85134028del , CM000685.1:g.85134026_85134028del	GRCh37
NC_000023.9:g.85020682_85020684del	NCBI36
NG_009874.2:g.173543_173545del , LRG_699:g.173543_173545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1554_1556del MANE Select	ENSP00000350386.2:p.Glu518del
ENST00000357749.6:c.1554_1556del	ENSP00000350386.2:p.Glu518del
ENST00000467744.2:n.127-15926_127-15924del
NM_000390.2:c.1554_1556del , LRG_699t1:c.1554_1556del	NP_000381.1:p.Glu518del
XM_006724615.2:c.1491_1493del	XP_006724678.1:p.Glu497del
XM_011530839.1:c.1110_1112del	XP_011529141.1:p.Glu370del
NM_000390.3:c.1554_1556del	NP_000381.1:p.Glu518del
NM_001320959.1:c.1110_1112del	NP_001307888.1:p.Glu370del
NM_001362517.1:c.1110_1112del	NP_001349446.1:p.Glu370del
NM_001362518.1:c.1110_1112del	NP_001349447.1:p.Glu370del
NM_001362519.1:c.1110_1112del	NP_001349448.1:p.Glu370del
XM_017029242.2:c.1554_1556del	XP_016884731.1:p.Glu518del
XM_017029246.1:c.1110_1112del	XP_016884735.1:p.Glu370del
XM_024452331.1:c.1110_1112del	XP_024308099.1:p.Glu370del
NM_000390.4:c.1554_1556del MANE Select	NP_000381.1:p.Glu518del
NM_001362518.2:c.1110_1112del	NP_001349447.1:p.Glu370del