Canonical Allele Identifier: CA2635576108

Gene: CHRNE

Linked Data

• gnomAD v4: 17-4898106-CAGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898111_4898114del , CM000679.2:g.4898111_4898114del	GRCh38
NC_000017.10:g.4801406_4801409del , CM000679.1:g.4801406_4801409del	GRCh37
NC_000017.9:g.4742185_4742188del	NCBI36
NG_008029.2:g.9966_9969del
NG_028005.1:g.69772_69775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*626_*629del MANE Select	ENSP00000497829.1:n.*626_*629del
ENST00000649830.1:c.*744_*747del	ENSP00000496907.1:n.*744_*747del
ENST00000652550.1:n.1834_1837del
ENST00000293780.4:c.*626_*629del	ENSP00000293780.4:n.*626_*629del
ENST00000572438.1:n.1794_1797del
NM_000080.3:c.*626_*629del	NP_000071.1:n.*626_*629del
NM_000080.4:c.*626_*629del MANE Select	NP_000071.1:n.*626_*629del
XM_017024115.1:c.*626_*629del	XP_016879604.1:n.*626_*629del