Canonical Allele Identifier: CA2695224235

Gene: CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899347_4899373del , CM000679.2:g.4899347_4899373del	GRCh38
NC_000017.10:g.4802642_4802668del , CM000679.1:g.4802642_4802668del	GRCh37
NC_000017.9:g.4743421_4743447del	NCBI36
NG_008029.2:g.8705_8731del
NG_028005.1:g.71008_71034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1046_1072del MANE Select	ENSP00000497829.1:p.Leu349_Pro357del
ENST00000649830.1:c.113_139del	ENSP00000496907.1:p.Leu38_Pro46del
ENST00000652550.1:n.776_802del
ENST00000293780.4:c.1046_1072del	ENSP00000293780.4:p.Leu349_Pro357del
ENST00000572438.1:n.732_758del
NM_000080.3:c.1046_1072del	NP_000071.1:p.Leu349_Pro357del
NM_000080.4:c.1046_1072del MANE Select	NP_000071.1:p.Leu349_Pro357del
XM_017024115.1:c.1010_1036del	XP_016879604.1:p.Leu337_Pro345del
XR_001752421.1:n.1776_1802del