Canonical Allele Identifier: CA624856045

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs1456497385
• gnomAD v2: 17-4804130-TGGGCAATGA-T
• gnomAD v3: 17-4900835-TGGGCAATGA-T
• gnomAD v4: 17-4900835-TGGGCAATGA-T
• MyVariant Identifiers: chr17:g.4804131_4804139del (hg19) ; chr17:g.4900836_4900844del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900838_4900846del , CM000679.2:g.4900838_4900846del	GRCh38
NC_000017.10:g.4804133_4804141del , CM000679.1:g.4804133_4804141del	GRCh37
NC_000017.9:g.4744912_4744920del	NCBI36
NG_008029.2:g.7232_7240del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*305_*313del (C17orf107) MANE Select	ENSP00000370770.3:n.*305_*313del
ENST00000649488.2:c.866_874del (CHRNE) MANE Select	ENSP00000497829.1:p.Leu289_Ala291del
ENST00000649830.1:c.-68_-60del (CHRNE)	ENSP00000496907.1:n.-68_-60del
ENST00000293780.4:c.866_874del (CHRNE)	ENSP00000293780.4:p.Leu289_Ala291del
ENST00000381365.3:c.*305_*313del (C17orf107)	ENSP00000370770.3:n.*305_*313del
ENST00000572438.1:n.552_560del (CHRNE)
NM_000080.3:c.866_874del (CHRNE)	NP_000071.1:p.Leu289_Ala291del
NM_001145536.1:c.*305_*313del (C17orf107)	NP_001139008.1:n.*305_*313del
XM_011523612.1:c.546+332_546+340del (C17orf107)	XP_011521914.1:n.546+332_546+340del
XM_011523631.1:c.802+146_802+154del (CHRNE)	XP_011521933.1:n.802+146_802+154del
NM_000080.4:c.866_874del (CHRNE) MANE Select	NP_000071.1:p.Leu289_Ala291del
XM_017024115.1:c.830_838del (CHRNE)	XP_016879604.1:p.Leu277_Ala279del
XR_001752421.1:n.1647+146_1647+154del (CHRNE)
NM_001145536.2:c.*305_*313del (C17orf107) MANE Select	NP_001139008.1:n.*305_*313del