Canonical Allele Identifier: CA8314197

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs775985643
• ExAC: 17:4804039 GCCCCCACCCTTCACACTGGCCACA / G
• gnomAD v2: 17-4804039-GCCCCCACCCTTCACACTGGCCACA-G
• gnomAD v4: 17-4900744-GCCCCCACCCTTCACACTGGCCACA-G
• MyVariant Identifiers: chr17:g.4804040_4804063del (hg19) ; chr17:g.4900745_4900768del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900750_4900773del , CM000679.2:g.4900750_4900773del	GRCh38
NC_000017.10:g.4804045_4804068del , CM000679.1:g.4804045_4804068del	GRCh37
NC_000017.9:g.4744824_4744847del	NCBI36
NG_008029.2:g.7308_7331del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*217_*240del (C17orf107) MANE Select	ENSP00000370770.3:n.*217_*240del
ENST00000649488.2:c.917+25_917+48del (CHRNE) MANE Select	ENSP00000497829.1:n.917+25_917+48del
ENST00000649830.1:c.-17+25_-17+48del (CHRNE)	ENSP00000496907.1:n.-17+25_-17+48del
ENST00000293780.4:c.917+25_917+48del (CHRNE)	ENSP00000293780.4:n.917+25_917+48del
ENST00000381365.3:c.*217_*240del (C17orf107)	ENSP00000370770.3:n.*217_*240del
ENST00000521575.1:c.*584_*607del (C17orf107)	ENSP00000429241.1:n.*584_*607del
ENST00000572438.1:n.603+25_603+48del (CHRNE)
NM_000080.3:c.917+25_917+48del (CHRNE)	NP_000071.1:n.917+25_917+48del
NM_001145536.1:c.*217_*240del (C17orf107)	NP_001139008.1:n.*217_*240del
XM_011523612.1:c.546+244_546+267del (C17orf107)	XP_011521914.1:n.546+244_546+267del
XM_011523631.1:c.802+222_802+245del (CHRNE)	XP_011521933.1:n.802+222_802+245del
NM_000080.4:c.917+25_917+48del (CHRNE) MANE Select	NP_000071.1:n.917+25_917+48del
XM_017024115.1:c.881+25_881+48del (CHRNE)	XP_016879604.1:n.881+25_881+48del
XR_001752421.1:n.1647+222_1647+245del (CHRNE)
NM_001145536.2:c.*217_*240del (C17orf107) MANE Select	NP_001139008.1:n.*217_*240del