Canonical Allele Identifier: CA2244609908

Gene: CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898155_4898185delinsCTGCAATGAGTGAGCCTCATGGGGTGGGATG , CM000679.2:g.4898155_4898185delinsCTGCAATGAGTGAGCCTCATGGGGTGGGATG	GRCh38
NC_000017.10:g.4801450_4801480delinsCTGCAATGAGTGAGCCTCATGGGGTGGGATG , CM000679.1:g.4801450_4801480delinsCTGCAATGAGTGAGCCTCATGGGGTGGGATG	GRCh37
NC_000017.9:g.4742229_4742259delinsCTGCAATGAGTGAGCCTCATGGGGTGGGATG	NCBI36
NG_008029.2:g.9891_9921delinsCATCCCACCCCATGAGGCTCACTCATTGCAG
NG_028005.1:g.69816_69846delinsCTGCAATGAGTGAGCCTCATGGGGTGGGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*551_*581delinsCATCCCACCCCATGAGGCTCACTCATTGCAG MANE Select	ENSP00000497829.1:n.*551_*581delinsCATCCCACCCCATGAGGCTCACTCAT...
ENST00000649830.1:c.*669_*699delinsCATCCCACCCCATGAGGCTCACTCATTGCAG	ENSP00000496907.1:n.*669_*699delinsCATCCCACCCCATGAGGCTCACTCAT...
ENST00000652550.1:n.1759_1789delinsCATCCCACCCCATGAGGCTCACTCATTGCAG
ENST00000293780.4:c.*551_*581delinsCATCCCACCCCATGAGGCTCACTCATTGCAG	ENSP00000293780.4:n.*551_*581delinsCATCCCACCCCATGAGGCTCACTCAT...
ENST00000572438.1:n.1719_1749delinsCATCCCACCCCATGAGGCTCACTCATTGCAG
NM_000080.3:c.*551_*581delinsCATCCCACCCCATGAGGCTCACTCATTGCAG	NP_000071.1:n.*551_*581delinsCATCCCACCCCATGAGGCTCACTCATTGCAG
NM_000080.4:c.*551_*581delinsCATCCCACCCCATGAGGCTCACTCATTGCAG MANE Select	NP_000071.1:n.*551_*581delinsCATCCCACCCCATGAGGCTCACTCATTGCAG
XM_017024115.1:c.*551_*581delinsCATCCCACCCCATGAGGCTCACTCATTGCAG	XP_016879604.1:n.*551_*581delinsCATCCCACCCCATGAGGCTCACTCATTGC...