Canonical Allele Identifier: CA980969709

Gene: CHRNE

Linked Data

• gnomAD v3: 17-4898086-T-TGTCA
• gnomAD v4: 17-4898086-T-TGTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898089_4898092dup , CM000679.2:g.4898089_4898092dup	GRCh38
NC_000017.10:g.4801384_4801387dup , CM000679.1:g.4801384_4801387dup	GRCh37
NC_000017.9:g.4742163_4742166dup	NCBI36
NG_008029.2:g.9986_9989dup
NG_028005.1:g.69750_69753dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*646_*649dup MANE Select	ENSP00000497829.1:n.*646_*649dup
ENST00000649830.1:c.*764_*767dup	ENSP00000496907.1:n.*764_*767dup
ENST00000652550.1:n.1854_1857dup
ENST00000293780.4:c.*646_*649dup	ENSP00000293780.4:n.*646_*649dup
ENST00000572438.1:n.1814_1817dup
NM_000080.3:c.*646_*649dup	NP_000071.1:n.*646_*649dup
NM_000080.4:c.*646_*649dup MANE Select	NP_000071.1:n.*646_*649dup
XM_017024115.1:c.*646_*649dup	XP_016879604.1:n.*646_*649dup