Canonical Allele Identifier: CA2629788562

Gene: CHRNA5

Linked Data

• gnomAD v4: 15-78590456-ATTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78590459_78590462del , CM000677.2:g.78590459_78590462del	GRCh38
NC_000015.9:g.78882801_78882804del , CM000677.1:g.78882801_78882804del	GRCh37
NC_000015.8:g.76669856_76669859del	NCBI36
NG_023328.1:g.29940_29943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.1068_1071del MANE Select	ENSP00000299565.5:p.Leu357ThrfsTer9
ENST00000394802.4:c.522+361_522+364del
ENST00000559554.5:c.458+610_458+613del	ENSP00000453519.1:n.458+610_458+613del
ENST00000559576.1:c.98_101del
NM_000745.3:c.1068_1071del	NP_000736.2:p.Leu357ThrfsTer9
NM_001307945.1:c.458+610_458+613del	NP_001294874.1:n.458+610_458+613del
XM_005254142.2:c.707+361_707+364del	XP_005254199.1:n.707+361_707+364del
NM_001307945.2:c.458+610_458+613del	NP_001294874.1:n.458+610_458+613del
NM_000745.4:c.1068_1071del MANE Select	NP_000736.2:p.Leu357ThrfsTer9
NM_001395171.1:c.1068_1071del	NP_001382100.1:p.Leu357ThrfsTer9
NM_001395172.1:c.591+477_591+480del	NP_001382101.1:n.591+477_591+480del
NM_001395173.1:c.713+355_713+358del	NP_001382102.1:n.713+355_713+358del
NM_001395174.1:c.707+361_707+364del	NP_001382103.1:n.707+361_707+364del
NM_001395175.1:c.455+610_455+613del	NP_001382104.1:n.455+610_455+613del