Canonical Allele Identifier: CA7684654
Community Standard Title: NM_000743.5(CHRNA3):c.67_69del (p.Leu23del)
Gene: CHRNA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78620745_78620747del , CM000677.2:g.78620745_78620747del GRCh38
NC_000015.9:g.78913087_78913089del , CM000677.1:g.78913087_78913089del GRCh37
NC_000015.8:g.76700142_76700144del NCBI36
NG_016143.1:g.5568_5570del

Transcript Alleles

HGVS Amino-acid Change
NM_000743.5:c.67_69del MANE Select NP_000734.2:p.Leu23del
ENST00000326828.6:c.67_69del MANE Select ENSP00000315602.5:p.Leu23del
NM_000743.4:c.67_69del NP_000734.2:p.Leu23del
NM_001166694.1:c.67_69del NP_001160166.1:p.Leu23del
NM_001166694.2:c.67_69del NP_001160166.1:p.Leu23del
NR_046313.1:n.568_570del
NR_046313.2:n.269_271del
ENST00000326828.5:c.67_69del ENSP00000315602.5:p.Leu23del
ENST00000348639.7:c.67_69del ENSP00000267951.4:p.Leu23del
ENST00000559658.5:c.67_69del ENSP00000452896.1:p.Leu23del
ENST00000561128.1:n.62_64del