Canonical Allele Identifier: CA624855766

Gene: CHRNE

Linked Data

• dbSNP Id: rs1567635219
• gnomAD v2: 17-4802003-A-ATGGG
• gnomAD v4: 17-4898708-A-ATGGG
• MyVariant Identifiers: chr17:g.4802003_4802004insTGGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898713_4898716dup , CM000679.2:g.4898713_4898716dup	GRCh38
NC_000017.10:g.4802008_4802011dup , CM000679.1:g.4802008_4802011dup	GRCh37
NC_000017.9:g.4742787_4742790dup	NCBI36
NG_008029.2:g.9364_9367dup
NG_028005.1:g.70374_70377dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*24_*27dup MANE Select	ENSP00000497829.1:n.*24_*27dup
ENST00000649830.1:c.*142_*145dup	ENSP00000496907.1:n.*142_*145dup
ENST00000652550.1:n.1232_1235dup
ENST00000293780.4:c.*24_*27dup	ENSP00000293780.4:n.*24_*27dup
ENST00000572438.1:n.1192_1195dup
NM_000080.3:c.*24_*27dup	NP_000071.1:n.*24_*27dup
NM_000080.4:c.*24_*27dup MANE Select	NP_000071.1:n.*24_*27dup
XM_017024115.1:c.*24_*27dup	XP_016879604.1:n.*24_*27dup