Canonical Allele Identifier: CA2697556117

Gene: CHRNE C17orf107

Linked Data

• ClinVar Variation Id: 2692228
• ClinVar RCV Id: RCV003494425

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899468_4899486dup , CM000679.2:g.4899468_4899486dup	GRCh38
NC_000017.10:g.4802763_4802781dup , CM000679.1:g.4802763_4802781dup	GRCh37
NC_000017.9:g.4743542_4743560dup	NCBI36
NG_008029.2:g.8592_8610dup
NG_028005.1:g.71129_71147dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1016_1032+2dup (CHRNE)
ENST00000649830.1:c.83_99+2dup (CHRNE)
ENST00000652550.1:n.746_762+2dup (CHRNE)
ENST00000293780.4:c.1016_1032+2dup (CHRNE)
ENST00000521575.1:c.-295_-277dup (C17orf107)	ENSP00000429241.1:n.-295_-277dup
ENST00000572438.1:n.702_718+2dup (CHRNE)
NM_000080.3:c.1016_1032+2dup (CHRNE)
XM_011523612.1:c.-295_-277dup (C17orf107)	XP_011521914.1:n.-295_-277dup
NM_000080.4:c.1016_1032+2dup (CHRNE)
XM_017024115.1:c.980_996+2dup (CHRNE)
XR_001752421.1:n.1746_1762+2dup (CHRNE)