Canonical Allele Identifier: CA2244610137

Gene: CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898482_4898486delinsCTGAA , CM000679.2:g.4898482_4898486delinsCTGAA	GRCh38
NC_000017.10:g.4801777_4801781delinsCTGAA , CM000679.1:g.4801777_4801781delinsCTGAA	GRCh37
NC_000017.9:g.4742556_4742560delinsCTGAA	NCBI36
NG_008029.2:g.9590_9594delinsTTCAG
NG_028005.1:g.70143_70147delinsCTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*250_*254delinsTTCAG MANE Select	ENSP00000497829.1:n.*250_*254delinsTTCAG
ENST00000649830.1:c.*368_*372delinsTTCAG	ENSP00000496907.1:n.*368_*372delinsTTCAG
ENST00000652550.1:n.1458_1462delinsTTCAG
ENST00000293780.4:c.*250_*254delinsTTCAG	ENSP00000293780.4:n.*250_*254delinsTTCAG
ENST00000572438.1:n.1418_1422delinsTTCAG
NM_000080.3:c.*250_*254delinsTTCAG	NP_000071.1:n.*250_*254delinsTTCAG
NM_000080.4:c.*250_*254delinsTTCAG MANE Select	NP_000071.1:n.*250_*254delinsTTCAG
XM_017024115.1:c.*250_*254delinsTTCAG	XP_016879604.1:n.*250_*254delinsTTCAG