Canonical Allele Identifier: CA2244612611

Gene: C17orf107 CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902043_4902047delinsACGAG , CM000679.2:g.4902043_4902047delinsACGAG	GRCh38
NC_000017.10:g.4805338_4805342delinsACGAG , CM000679.1:g.4805338_4805342delinsACGAG	GRCh37
NC_000017.9:g.4746117_4746121delinsACGAG	NCBI36
NG_008029.2:g.6029_6033delinsCTCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1510_*1514delinsACGAG (C17orf107) MANE Select	ENSP00000370770.3:n.*1510_*1514delinsACGAG
ENST00000649488.2:c.385_389delinsCTCGT (CHRNE) MANE Select	ENSP00000497829.1:p.Leu129=
ENST00000649830.1:c.-549_-545delinsCTCGT (CHRNE)	ENSP00000496907.1:n.-549_-545delinsCTCGT
ENST00000293780.4:c.385_389delinsCTCGT (CHRNE)	ENSP00000293780.4:p.Leu129=
ENST00000381365.3:c.*1510_*1514delinsACGAG (C17orf107)	ENSP00000370770.3:n.*1510_*1514delinsACGAG
ENST00000575637.1:n.206_210delinsCTCGT (CHRNE)
NM_000080.3:c.385_389delinsCTCGT (CHRNE)	NP_000071.1:p.Leu129=
NM_001145536.1:c.*1510_*1514delinsACGAG (C17orf107)	NP_001139008.1:n.*1510_*1514delinsACGAG
XM_011523612.1:c.546+1537_546+1541delinsACGAG (C17orf107)	XP_011521914.1:n.546+1537_546+1541delinsACGAG
XM_011523631.1:c.385_389delinsCTCGT (CHRNE)	XP_011521933.1:p.Leu129=
NM_000080.4:c.385_389delinsCTCGT (CHRNE) MANE Select	NP_000071.1:p.Leu129=
XM_017024115.1:c.349_353delinsCTCGT (CHRNE)	XP_016879604.1:p.Leu117=
XR_001752421.1:n.1230_1234delinsCTCGT (CHRNE)
NM_001145536.2:c.*1510_*1514delinsACGAG (C17orf107) MANE Select	NP_001139008.1:n.*1510_*1514delinsACGAG