Canonical Allele Identifier: CA2561731333

Gene: CHRNE

Linked Data

• gnomAD v4: 17-4898118-CCAGGGTGGGGAAGAAAGGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898128_4898147del , CM000679.2:g.4898128_4898147del	GRCh38
NC_000017.10:g.4801423_4801442del , CM000679.1:g.4801423_4801442del	GRCh37
NC_000017.9:g.4742202_4742221del	NCBI36
NG_008029.2:g.9938_9957del
NG_028005.1:g.69789_69808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*598_*617del MANE Select	ENSP00000497829.1:n.*598_*617del
ENST00000649830.1:c.*716_*735del	ENSP00000496907.1:n.*716_*735del
ENST00000652550.1:n.1806_1825del
ENST00000293780.4:c.*598_*617del	ENSP00000293780.4:n.*598_*617del
ENST00000572438.1:n.1766_1785del
NM_000080.3:c.*598_*617del	NP_000071.1:n.*598_*617del
NM_000080.4:c.*598_*617del MANE Select	NP_000071.1:n.*598_*617del
XM_017024115.1:c.*598_*617del	XP_016879604.1:n.*598_*617del