Canonical Allele Identifier: CA2507950121

Gene: CHRNE

Linked Data

• gnomAD v4: 17-4898107-AGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898111_4898164del , CM000679.2:g.4898111_4898164del	GRCh38
NC_000017.10:g.4801406_4801459del , CM000679.1:g.4801406_4801459del	GRCh37
NC_000017.9:g.4742185_4742238del	NCBI36
NG_008029.2:g.9915_9968del
NG_028005.1:g.69772_69825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*575_*628del MANE Select	ENSP00000497829.1:n.*575_*628del
ENST00000649830.1:c.*693_*746del	ENSP00000496907.1:n.*693_*746del
ENST00000652550.1:n.1783_1836del
ENST00000293780.4:c.*575_*628del	ENSP00000293780.4:n.*575_*628del
ENST00000572438.1:n.1743_1796del
NM_000080.3:c.*575_*628del	NP_000071.1:n.*575_*628del
NM_000080.4:c.*575_*628del MANE Select	NP_000071.1:n.*575_*628del
XM_017024115.1:c.*575_*628del	XP_016879604.1:n.*575_*628del