Canonical Allele Identifier: CA772686235

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs1408530980
• MyVariant Identifiers: chr17:g.4804046del (hg19) ; chr17:g.4900751del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900753del , CM000679.2:g.4900753del	GRCh38
NC_000017.10:g.4804048del , CM000679.1:g.4804048del	GRCh37
NC_000017.9:g.4744827del	NCBI36
NG_008029.2:g.7325del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*220del (C17orf107) MANE Select	ENSP00000370770.3:n.*220del
ENST00000649488.2:c.917+42del (CHRNE) MANE Select	ENSP00000497829.1:n.917+42del
ENST00000649830.1:c.-17+42del (CHRNE)	ENSP00000496907.1:n.-17+42del
ENST00000293780.4:c.917+42del (CHRNE)	ENSP00000293780.4:n.917+42del
ENST00000381365.3:c.*220del (C17orf107)	ENSP00000370770.3:n.*220del
ENST00000521575.1:c.*587del (C17orf107)	ENSP00000429241.1:n.*587del
ENST00000572438.1:n.603+42del (CHRNE)
NM_000080.3:c.917+42del (CHRNE)	NP_000071.1:n.917+42del
NM_001145536.1:c.*220del (C17orf107)	NP_001139008.1:n.*220del
XM_011523612.1:c.546+247del (C17orf107)	XP_011521914.1:n.546+247del
XM_011523631.1:c.802+239del (CHRNE)	XP_011521933.1:n.802+239del
NM_000080.4:c.917+42del (CHRNE) MANE Select	NP_000071.1:n.917+42del
XM_017024115.1:c.881+42del (CHRNE)	XP_016879604.1:n.881+42del
XR_001752421.1:n.1647+239del (CHRNE)
NM_001145536.2:c.*220del (C17orf107) MANE Select	NP_001139008.1:n.*220del