Canonical Allele Identifier: CA2635577299

Gene: CHRNE

Linked Data

• gnomAD v4: 17-4898654-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898656_4898657del , CM000679.2:g.4898656_4898657del	GRCh38
NC_000017.10:g.4801951_4801952del , CM000679.1:g.4801951_4801952del	GRCh37
NC_000017.9:g.4742730_4742731del	NCBI36
NG_008029.2:g.9420_9421del
NG_028005.1:g.70317_70318del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*80_*81del MANE Select	ENSP00000497829.1:n.*80_*81del
ENST00000649830.1:c.*198_*199del	ENSP00000496907.1:n.*198_*199del
ENST00000652550.1:n.1288_1289del
ENST00000293780.4:c.*80_*81del	ENSP00000293780.4:n.*80_*81del
ENST00000572438.1:n.1248_1249del
NM_000080.3:c.*80_*81del	NP_000071.1:n.*80_*81del
NM_000080.4:c.*80_*81del MANE Select	NP_000071.1:n.*80_*81del
XM_017024115.1:c.*80_*81del	XP_016879604.1:n.*80_*81del