Canonical Allele Identifier: CA2576135502

Gene: CHRNE

Linked Data

• gnomAD v4: 17-4898662-C-CGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898667_4898669dup , CM000679.2:g.4898667_4898669dup	GRCh38
NC_000017.10:g.4801962_4801964dup , CM000679.1:g.4801962_4801964dup	GRCh37
NC_000017.9:g.4742741_4742743dup	NCBI36
NG_008029.2:g.9411_9413dup
NG_028005.1:g.70328_70330dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*71_*73dup MANE Select	ENSP00000497829.1:n.*71_*73dup
ENST00000649830.1:c.*189_*191dup	ENSP00000496907.1:n.*189_*191dup
ENST00000652550.1:n.1279_1281dup
ENST00000293780.4:c.*71_*73dup	ENSP00000293780.4:n.*71_*73dup
ENST00000572438.1:n.1239_1241dup
NM_000080.3:c.*71_*73dup	NP_000071.1:n.*71_*73dup
NM_000080.4:c.*71_*73dup MANE Select	NP_000071.1:n.*71_*73dup
XM_017024115.1:c.*71_*73dup	XP_016879604.1:n.*71_*73dup