Canonical Allele Identifier: CA624856038

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs1326861346
• gnomAD v2: 17-4805234-T-TAAGCGA
• MyVariant Identifiers: chr17:g.4805234_4805235insAAGCGA (hg19) ; chr17:g.4901939_4901940insAAGCGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4901941_4901946dup , CM000679.2:g.4901941_4901946dup	GRCh38
NC_000017.10:g.4805236_4805241dup , CM000679.1:g.4805236_4805241dup	GRCh37
NC_000017.9:g.4746015_4746020dup	NCBI36
NG_008029.2:g.6131_6136dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1408_*1413dup (C17orf107) MANE Select	ENSP00000370770.3:n.*1408_*1413dup
ENST00000649488.2:c.487_492dup (CHRNE) MANE Select	ENSP00000497829.1:p.Leu164_Ile165insSerLeu
ENST00000649830.1:c.-447_-442dup (CHRNE)	ENSP00000496907.1:n.-447_-442dup
ENST00000293780.4:c.487_492dup (CHRNE)	ENSP00000293780.4:p.Leu164_Ile165insSerLeu
ENST00000381365.3:c.*1408_*1413dup (C17orf107)	ENSP00000370770.3:n.*1408_*1413dup
ENST00000575637.1:n.274+34_274+39dup (CHRNE)
NM_000080.3:c.487_492dup (CHRNE)	NP_000071.1:p.Leu164_Ile165insSerLeu
NM_001145536.1:c.*1408_*1413dup (C17orf107)	NP_001139008.1:n.*1408_*1413dup
XM_011523612.1:c.546+1435_546+1440dup (C17orf107)	XP_011521914.1:n.546+1435_546+1440dup
XM_011523631.1:c.487_492dup (CHRNE)	XP_011521933.1:p.Leu164_Ile165insSerLeu
NM_000080.4:c.487_492dup (CHRNE) MANE Select	NP_000071.1:p.Leu164_Ile165insSerLeu
XM_017024115.1:c.451_456dup (CHRNE)	XP_016879604.1:p.Leu152_Ile153insSerLeu
XR_001752421.1:n.1332_1337dup (CHRNE)
NM_001145536.2:c.*1408_*1413dup (C17orf107) MANE Select	NP_001139008.1:n.*1408_*1413dup