Canonical Allele Identifier: CA287186492

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs36019536
• MyVariant Identifiers: chr17:g.4805462_4805463insA (hg19) ; chr17:g.4902167_4902168insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902167_4902168insA , CM000679.2:g.4902167_4902168insA	GRCh38
NC_000017.10:g.4805462_4805463insA , CM000679.1:g.4805462_4805463insA	GRCh37
NC_000017.9:g.4746241_4746242insA	NCBI36
NG_008029.2:g.5908_5909insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1634_*1635insA (C17orf107) MANE Select	ENSP00000370770.3:n.*1634_*1635insA
ENST00000649488.2:c.344+49_344+50insT (CHRNE) MANE Select	ENSP00000497829.1:n.344+49_344+50insT
ENST00000649830.1:c.-590+49_-590+50insT (CHRNE)	ENSP00000496907.1:n.-590+49_-590+50insT
ENST00000293780.4:c.344+49_344+50insT (CHRNE)	ENSP00000293780.4:n.344+49_344+50insT
ENST00000381365.3:c.*1634_*1635insA (C17orf107)	ENSP00000370770.3:n.*1634_*1635insA
ENST00000575637.1:n.165+49_165+50insT (CHRNE)
NM_000080.3:c.344+49_344+50insT (CHRNE)	NP_000071.1:n.344+49_344+50insT
NM_001145536.1:c.*1634_*1635insA (C17orf107)	NP_001139008.1:n.*1634_*1635insA
XM_011523612.1:c.546+1661_546+1662insA (C17orf107)	XP_011521914.1:n.546+1661_546+1662insA
XM_011523631.1:c.344+49_344+50insT (CHRNE)	XP_011521933.1:n.344+49_344+50insT
NM_000080.4:c.344+49_344+50insT (CHRNE) MANE Select	NP_000071.1:n.344+49_344+50insT
XM_017024115.1:c.308+49_308+50insT (CHRNE)	XP_016879604.1:n.308+49_308+50insT
XR_001752421.1:n.1189+49_1189+50insT (CHRNE)
NM_001145536.2:c.*1634_*1635insA (C17orf107) MANE Select	NP_001139008.1:n.*1634_*1635insA