Canonical Allele Identifier: CA2442451054

Gene: CHM

Linked Data

• dbSNP Id: rs1924600371

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85879085_85879086insTAACTCATGATGGAAAGGTAAT , CM000685.2:g.85879085_85879086insTAACTCATGATGGAAAGGTAAT	GRCh38
NC_000023.10:g.85134090_85134091insTAACTCATGATGGAAAGGTAAT , CM000685.1:g.85134090_85134091insTAACTCATGATGGAAAGGTAAT	GRCh37
NC_000023.9:g.85020746_85020747insTAACTCATGATGGAAAGGTAAT	NCBI36
NG_009874.2:g.173477_173478insATTACCTTTCCATCATGAGTTA , LRG_699:g.173477_173478insATTACCTTTCCATCATGAGTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1511-23_1511-22insATTACCTTTCCATCATGAGTTA MANE Select	ENSP00000350386.2:n.1511-23_1511-22insATTACCTTTCCATCATGAGTTA
ENST00000357749.6:c.1511-23_1511-22insATTACCTTTCCATCATGAGTTA	ENSP00000350386.2:n.1511-23_1511-22insATTACCTTTCCATCATGAGTTA
ENST00000467744.2:n.127-15992_127-15991insATTACCTTTCCATCATGAGTTA
NM_000390.2:c.1511-23_1511-22insATTACCTTTCCATCATGAGTTA , LRG_699t1:c.1511-23_1511-22insATTACCTTTCCATCATGAGTTA	NP_000381.1:n.1511-23_1511-22insATTACCTTTCCATCATGAGTTA
XM_006724615.2:c.1448-23_1448-22insATTACCTTTCCATCATGAGTTA	XP_006724678.1:n.1448-23_1448-22insATTACCTTTCCATCATGAGTTA
XM_011530839.1:c.1067-23_1067-22insATTACCTTTCCATCATGAGTTA	XP_011529141.1:n.1067-23_1067-22insATTACCTTTCCATCATGAGTTA
NM_000390.3:c.1511-23_1511-22insATTACCTTTCCATCATGAGTTA	NP_000381.1:n.1511-23_1511-22insATTACCTTTCCATCATGAGTTA
NM_001320959.1:c.1067-23_1067-22insATTACCTTTCCATCATGAGTTA	NP_001307888.1:n.1067-23_1067-22insATTACCTTTCCATCATGAGTTA
NM_001362517.1:c.1067-23_1067-22insATTACCTTTCCATCATGAGTTA	NP_001349446.1:n.1067-23_1067-22insATTACCTTTCCATCATGAGTTA
NM_001362518.1:c.1067-23_1067-22insATTACCTTTCCATCATGAGTTA	NP_001349447.1:n.1067-23_1067-22insATTACCTTTCCATCATGAGTTA
NM_001362519.1:c.1067-23_1067-22insATTACCTTTCCATCATGAGTTA	NP_001349448.1:n.1067-23_1067-22insATTACCTTTCCATCATGAGTTA
XM_017029242.2:c.1511-23_1511-22insATTACCTTTCCATCATGAGTTA	XP_016884731.1:n.1511-23_1511-22insATTACCTTTCCATCATGAGTTA
XM_017029246.1:c.1067-23_1067-22insATTACCTTTCCATCATGAGTTA	XP_016884735.1:n.1067-23_1067-22insATTACCTTTCCATCATGAGTTA
XM_024452331.1:c.1067-23_1067-22insATTACCTTTCCATCATGAGTTA	XP_024308099.1:n.1067-23_1067-22insATTACCTTTCCATCATGAGTTA
NM_000390.4:c.1511-23_1511-22insATTACCTTTCCATCATGAGTTA MANE Select	NP_000381.1:n.1511-23_1511-22insATTACCTTTCCATCATGAGTTA
NM_001362518.2:c.1067-23_1067-22insATTACCTTTCCATCATGAGTTA	NP_001349447.1:n.1067-23_1067-22insATTACCTTTCCATCATGAGTTA