Canonical Allele Identifier: CA2822218969

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85958974_85958975insAGA , CM000685.2:g.85958974_85958975insAGA	GRCh38
NC_000023.10:g.85213979_85213980insAGA , CM000685.1:g.85213979_85213980insAGA	GRCh37
NC_000023.9:g.85100635_85100636insAGA	NCBI36
NG_009874.2:g.93588_93589insTCT , LRG_699:g.93588_93589insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.705_706insTCT MANE Select	ENSP00000350386.2:p.Leu235_Leu236insSer
ENST00000357749.6:c.705_706insTCT	ENSP00000350386.2:p.Leu235_Leu236insSer
ENST00000467744.2:n.126+68516_126+68517insTCT
NM_000390.2:c.705_706insTCT , LRG_699t1:c.705_706insTCT	NP_000381.1:p.Leu235_Leu236insSer
XM_006724615.2:c.642_643insTCT	XP_006724678.1:p.Leu214_Leu215insSer
XM_011530839.1:c.261_262insTCT	XP_011529141.1:p.Leu87_Leu88insSer
NM_000390.3:c.705_706insTCT	NP_000381.1:p.Leu235_Leu236insSer
NM_001320959.1:c.261_262insTCT	NP_001307888.1:p.Leu87_Leu88insSer
NM_001362517.1:c.261_262insTCT	NP_001349446.1:p.Leu87_Leu88insSer
NM_001362518.1:c.261_262insTCT	NP_001349447.1:p.Leu87_Leu88insSer
NM_001362519.1:c.261_262insTCT	NP_001349448.1:p.Leu87_Leu88insSer
XM_017029242.2:c.705_706insTCT	XP_016884731.1:p.Leu235_Leu236insSer
XM_017029246.1:c.261_262insTCT	XP_016884735.1:p.Leu87_Leu88insSer
XM_024452331.1:c.261_262insTCT	XP_024308099.1:p.Leu87_Leu88insSer
NM_000390.4:c.705_706insTCT MANE Select	NP_000381.1:p.Leu235_Leu236insSer
NM_001362518.2:c.261_262insTCT	NP_001349447.1:p.Leu87_Leu88insSer