Canonical Allele Identifier: CA2244610281

Gene: CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898704_4898738delinsGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTA , CM000679.2:g.4898704_4898738delinsGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTA	GRCh38
NC_000017.10:g.4801999_4802033delinsGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTA , CM000679.1:g.4801999_4802033delinsGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTA	GRCh37
NC_000017.9:g.4742778_4742812delinsGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTA	NCBI36
NG_008029.2:g.9338_9372delinsTAGCTCGCACCGACTTCAATTTCCCACCCATCTCC
NG_028005.1:g.70365_70399delinsGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1480_*32delinsTAGCTCGCACCGACTTCAATTTCCCACCCATCTCC MANE Select	ENSP00000497829.1:n.[c.1480_*32delinsTAGCTCGCACCGACTTCAATTTCC...
ENST00000649830.1:c.*116_*150delinsTAGCTCGCACCGACTTCAATTTCCCACCCATCTCC	ENSP00000496907.1:n.*116_*150delinsTAGCTCGCACCGACTTCAATTTCCCA...
ENST00000652550.1:n.1206_1240delinsTAGCTCGCACCGACTTCAATTTCCCACCCATCTCC
ENST00000293780.4:c.1480_*32delinsTAGCTCGCACCGACTTCAATTTCCCACCCATCTCC	ENSP00000293780.4:n.[c.1480_*32delinsTAGCTCGCACCGACTTCAATTTCC...
ENST00000572438.1:n.1166_1200delinsTAGCTCGCACCGACTTCAATTTCCCACCCATCTCC
NM_000080.3:c.1480_*32delinsTAGCTCGCACCGACTTCAATTTCCCACCCATCTCC	NP_000071.1:n.[c.1480_*32delinsTAGCTCGCACCGACTTCAATTTCCCACCCA...
NM_000080.4:c.1480_*32delinsTAGCTCGCACCGACTTCAATTTCCCACCCATCTCC MANE Select	NP_000071.1:n.[c.1480_*32delinsTAGCTCGCACCGACTTCAATTTCCCACCCA...
XM_017024115.1:c.1444_*32delinsTAGCTCGCACCGACTTCAATTTCCCACCCATCTCC	XP_016879604.1:n.[c.1444_*32delinsTAGCTCGCACCGACTTCAATTTCCCAC...