Canonical Allele Identifier: CA2442480545

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963711_85963715delinsTGTGA , CM000685.2:g.85963711_85963715delinsTGTGA	GRCh38
NC_000023.10:g.85218716_85218720delinsTGTGA , CM000685.1:g.85218716_85218720delinsTGTGA	GRCh37
NC_000023.9:g.85105372_85105376delinsTGTGA	NCBI36
NG_009874.2:g.88848_88852delinsTCACA , LRG_699:g.88848_88852delinsTCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.652_656delinsTCACA MANE Select	ENSP00000350386.2:p.Ser218=
ENST00000357749.6:c.652_656delinsTCACA	ENSP00000350386.2:p.Ser218=
ENST00000467744.2:n.126+63776_126+63780delinsTCACA
NM_000390.2:c.652_656delinsTCACA , LRG_699t1:c.652_656delinsTCACA	NP_000381.1:p.Ser218=
XM_006724615.2:c.589_593delinsTCACA	XP_006724678.1:p.Ser197=
XM_011530839.1:c.208_212delinsTCACA	XP_011529141.1:p.Ser70=
NM_000390.3:c.652_656delinsTCACA	NP_000381.1:p.Ser218=
NM_001320959.1:c.208_212delinsTCACA	NP_001307888.1:p.Ser70=
NM_001362517.1:c.208_212delinsTCACA	NP_001349446.1:p.Ser70=
NM_001362518.1:c.208_212delinsTCACA	NP_001349447.1:p.Ser70=
NM_001362519.1:c.208_212delinsTCACA	NP_001349448.1:p.Ser70=
XM_017029242.2:c.652_656delinsTCACA	XP_016884731.1:p.Ser218=
XM_017029246.1:c.208_212delinsTCACA	XP_016884735.1:p.Ser70=
XM_024452331.1:c.208_212delinsTCACA	XP_024308099.1:p.Ser70=
NM_000390.4:c.652_656delinsTCACA MANE Select	NP_000381.1:p.Ser218=
NM_001362518.2:c.208_212delinsTCACA	NP_001349447.1:p.Ser70=