Canonical Allele Identifier: CA2822219141

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963969_85963970insAGA , CM000685.2:g.85963969_85963970insAGA	GRCh38
NC_000023.10:g.85218974_85218975insAGA , CM000685.1:g.85218974_85218975insAGA	GRCh37
NC_000023.9:g.85105630_85105631insAGA	NCBI36
NG_009874.2:g.88593_88594insTCT , LRG_699:g.88593_88594insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.397_398insTCT MANE Select	ENSP00000350386.2:p.Ala133delinsValSer
ENST00000357749.6:c.397_398insTCT	ENSP00000350386.2:p.Ala133delinsValSer
ENST00000467744.2:n.126+63521_126+63522insTCT
NM_000390.2:c.397_398insTCT , LRG_699t1:c.397_398insTCT	NP_000381.1:p.Ala133delinsValSer
XM_006724615.2:c.334_335insTCT	XP_006724678.1:p.Ala112delinsValSer
XM_011530839.1:c.-48_-47insTCT	XP_011529141.1:n.-48_-47insTCT
NM_000390.3:c.397_398insTCT	NP_000381.1:p.Ala133delinsValSer
NM_001320959.1:c.-48_-47insTCT	NP_001307888.1:n.-48_-47insTCT
NM_001362517.1:c.-48_-47insTCT	NP_001349446.1:n.-48_-47insTCT
NM_001362518.1:c.-48_-47insTCT	NP_001349447.1:n.-48_-47insTCT
NM_001362519.1:c.-48_-47insTCT	NP_001349448.1:n.-48_-47insTCT
XM_017029242.2:c.397_398insTCT	XP_016884731.1:p.Ala133delinsValSer
XM_017029246.1:c.-48_-47insTCT	XP_016884735.1:n.-48_-47insTCT
XM_024452331.1:c.-48_-47insTCT	XP_024308099.1:n.-48_-47insTCT
NM_000390.4:c.397_398insTCT MANE Select	NP_000381.1:p.Ala133delinsValSer
NM_001362518.2:c.-48_-47insTCT	NP_001349447.1:n.-48_-47insTCT