Canonical Allele Identifier: CA2573153000

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 1526117
• ClinVar RCV Id: RCV002052137 ; RCV003323975
• dbSNP Id: rs2151098283
• gnomAD v4: 17-4901977-ACCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4901980_4901982del , CM000679.2:g.4901980_4901982del	GRCh38
NC_000017.10:g.4805275_4805277del , CM000679.1:g.4805275_4805277del	GRCh37
NC_000017.9:g.4746054_4746056del	NCBI36
NG_008029.2:g.6096_6098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1447_*1449del (C17orf107) MANE Select	ENSP00000370770.3:n.*1447_*1449del
ENST00000649488.2:c.452_454del (CHRNE) MANE Select	ENSP00000497829.1:p.Glu151del
ENST00000649830.1:c.-482_-480del (CHRNE)	ENSP00000496907.1:n.-482_-480del
ENST00000293780.4:c.452_454del (CHRNE)	ENSP00000293780.4:p.Glu151del
ENST00000381365.3:c.*1447_*1449del (C17orf107)	ENSP00000370770.3:n.*1447_*1449del
ENST00000575637.1:n.273_274+1del (CHRNE)
NM_000080.3:c.452_454del (CHRNE)	NP_000071.1:p.Glu151del
NM_001145536.1:c.*1447_*1449del (C17orf107)	NP_001139008.1:n.*1447_*1449del
XM_011523612.1:c.546+1474_546+1476del (C17orf107)	XP_011521914.1:n.546+1474_546+1476del
XM_011523631.1:c.452_454del (CHRNE)	XP_011521933.1:p.Glu151del
NM_000080.4:c.452_454del (CHRNE) MANE Select	NP_000071.1:p.Glu151del
XM_017024115.1:c.416_418del (CHRNE)	XP_016879604.1:p.Glu139del
XR_001752421.1:n.1297_1299del (CHRNE)
NM_001145536.2:c.*1447_*1449del (C17orf107) MANE Select	NP_001139008.1:n.*1447_*1449del