Canonical Allele Identifier: CA2822219144

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85964017_85964018insAGA , CM000685.2:g.85964017_85964018insAGA	GRCh38
NC_000023.10:g.85219022_85219023insAGA , CM000685.1:g.85219022_85219023insAGA	GRCh37
NC_000023.9:g.85105678_85105679insAGA	NCBI36
NG_009874.2:g.88545_88546insTCT , LRG_699:g.88545_88546insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.349_350insTCT MANE Select	ENSP00000350386.2:p.Ala117delinsValSer
ENST00000357749.6:c.349_350insTCT	ENSP00000350386.2:p.Ala117delinsValSer
ENST00000467744.2:n.126+63473_126+63474insTCT
NM_000390.2:c.349_350insTCT , LRG_699t1:c.349_350insTCT	NP_000381.1:p.Ala117delinsValSer
XM_006724615.2:c.286_287insTCT	XP_006724678.1:p.Ala96delinsValSer
XM_011530839.1:c.-96_-95insTCT	XP_011529141.1:n.-96_-95insTCT
NM_000390.3:c.349_350insTCT	NP_000381.1:p.Ala117delinsValSer
NM_001320959.1:c.-96_-95insTCT	NP_001307888.1:n.-96_-95insTCT
NM_001362517.1:c.-96_-95insTCT	NP_001349446.1:n.-96_-95insTCT
NM_001362518.1:c.-96_-95insTCT	NP_001349447.1:n.-96_-95insTCT
NM_001362519.1:c.-96_-95insTCT	NP_001349448.1:n.-96_-95insTCT
XM_017029242.2:c.349_350insTCT	XP_016884731.1:p.Ala117delinsValSer
XM_017029246.1:c.-96_-95insTCT	XP_016884735.1:n.-96_-95insTCT
XM_024452331.1:c.-96_-95insTCT	XP_024308099.1:n.-96_-95insTCT
NM_000390.4:c.349_350insTCT MANE Select	NP_000381.1:p.Ala117delinsValSer
NM_001362518.2:c.-96_-95insTCT	NP_001349447.1:n.-96_-95insTCT