Canonical Allele Identifier: CA2635579200

Gene: CHRNE C17orf107

Linked Data

• gnomAD v4: 17-4899480-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899484del , CM000679.2:g.4899484del	GRCh38
NC_000017.10:g.4802779del , CM000679.1:g.4802779del	GRCh37
NC_000017.9:g.4743558del	NCBI36
NG_008029.2:g.8595del
NG_028005.1:g.71145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1019del (CHRNE) MANE Select	ENSP00000497829.1:p.Pro340ArgfsTer?
ENST00000649830.1:c.86del (CHRNE)	ENSP00000496907.1:p.Pro29ArgfsTer?
ENST00000652550.1:n.749del (CHRNE)
ENST00000293780.4:c.1019del (CHRNE)	ENSP00000293780.4:p.Pro340ArgfsTer?
ENST00000521575.1:c.-279del (C17orf107)	ENSP00000429241.1:n.-279del
ENST00000572438.1:n.705del (CHRNE)
NM_000080.3:c.1019del (CHRNE)	NP_000071.1:p.Pro340ArgfsTer?
XM_011523612.1:c.-279del (C17orf107)	XP_011521914.1:n.-279del
NM_000080.4:c.1019del (CHRNE) MANE Select	NP_000071.1:p.Pro340ArgfsTer?
XM_017024115.1:c.983del (CHRNE)	XP_016879604.1:p.Pro328ArgfsTer?
XR_001752421.1:n.1749del (CHRNE)