Canonical Allele Identifier: CA2635576116

Gene: CHRNE

Linked Data

• gnomAD v4: 17-4898117-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898119del , CM000679.2:g.4898119del	GRCh38
NC_000017.10:g.4801414del , CM000679.1:g.4801414del	GRCh37
NC_000017.9:g.4742193del	NCBI36
NG_008029.2:g.9958del
NG_028005.1:g.69780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*618del MANE Select	ENSP00000497829.1:n.*618del
ENST00000649830.1:c.*736del	ENSP00000496907.1:n.*736del
ENST00000652550.1:n.1826del
ENST00000293780.4:c.*618del	ENSP00000293780.4:n.*618del
ENST00000572438.1:n.1786del
NM_000080.3:c.*618del	NP_000071.1:n.*618del
NM_000080.4:c.*618del MANE Select	NP_000071.1:n.*618del
XM_017024115.1:c.*618del	XP_016879604.1:n.*618del