Canonical Allele Identifier: CA130791

Gene: C17orf107 CHRNE

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900818_4900820del , CM000679.2:g.4900818_4900820del	GRCh38
NC_000017.10:g.4804113_4804115del , CM000679.1:g.4804113_4804115del	GRCh37
NC_000017.9:g.4744892_4744894del	NCBI36
NG_008029.2:g.7258_7260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*285_*287del (C17orf107) MANE Select	ENSP00000370770.3:n.*285_*287del
ENST00000649488.2:c.892_894del (CHRNE) MANE Select	ENSP00000497829.1:p.Ser298del
ENST00000649830.1:c.-42_-40del (CHRNE)	ENSP00000496907.1:n.-42_-40del
ENST00000293780.4:c.892_894del (CHRNE)	ENSP00000293780.4:p.Ser298del
ENST00000381365.3:c.*285_*287del (C17orf107)	ENSP00000370770.3:n.*285_*287del
ENST00000572438.1:n.578_580del (CHRNE)
NM_000080.3:c.892_894del (CHRNE)	NP_000071.1:p.Ser298del
NM_001145536.1:c.*285_*287del (C17orf107)	NP_001139008.1:n.*285_*287del
XM_011523612.1:c.546+312_546+314del (C17orf107)	XP_011521914.1:n.546+312_546+314del
XM_011523631.1:c.802+172_802+174del (CHRNE)	XP_011521933.1:n.802+172_802+174del
NM_000080.4:c.892_894del (CHRNE) MANE Select	NP_000071.1:p.Ser298del
XM_017024115.1:c.856_858del (CHRNE)	XP_016879604.1:p.Ser286del
XR_001752421.1:n.1647+172_1647+174del (CHRNE)
NM_001145536.2:c.*285_*287del (C17orf107) MANE Select	NP_001139008.1:n.*285_*287del