Canonical Allele Identifier: CA2635577386

Gene: CHRNE

Linked Data

• gnomAD v4: 17-4898685-TCAAAATCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898686_4898694del , CM000679.2:g.4898686_4898694del	GRCh38
NC_000017.10:g.4801981_4801989del , CM000679.1:g.4801981_4801989del	GRCh37
NC_000017.9:g.4742760_4742768del	NCBI36
NG_008029.2:g.9382_9390del
NG_028005.1:g.70347_70355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*42_*50del MANE Select	ENSP00000497829.1:n.*42_*50del
ENST00000649830.1:c.*160_*168del	ENSP00000496907.1:n.*160_*168del
ENST00000652550.1:n.1250_1258del
ENST00000293780.4:c.*42_*50del	ENSP00000293780.4:n.*42_*50del
ENST00000572438.1:n.1210_1218del
NM_000080.3:c.*42_*50del	NP_000071.1:n.*42_*50del
NM_000080.4:c.*42_*50del MANE Select	NP_000071.1:n.*42_*50del
XM_017024115.1:c.*42_*50del	XP_016879604.1:n.*42_*50del