Canonical Allele Identifier: CA2629788501

Gene: CHRNA5

Linked Data

• gnomAD v4: 15-78589088-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78589089_78589090del , CM000677.2:g.78589089_78589090del	GRCh38
NC_000015.9:g.78881431_78881432del , CM000677.1:g.78881431_78881432del	GRCh37
NC_000015.8:g.76668486_76668487del	NCBI36
NG_023328.1:g.28570_28571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.413+666_413+667del MANE Select	ENSP00000299565.5:n.413+666_413+667del
ENST00000394802.4:c.228+666_228+667del
ENST00000559554.5:c.413+666_413+667del	ENSP00000453519.1:n.413+666_413+667del
NM_000745.3:c.413+666_413+667del	NP_000736.2:n.413+666_413+667del
NM_001307945.1:c.413+666_413+667del	NP_001294874.1:n.413+666_413+667del
XM_005254142.2:c.413+666_413+667del	XP_005254199.1:n.413+666_413+667del
NM_001307945.2:c.413+666_413+667del	NP_001294874.1:n.413+666_413+667del
NM_000745.4:c.413+666_413+667del MANE Select	NP_000736.2:n.413+666_413+667del
NM_001395171.1:c.413+666_413+667del	NP_001382100.1:n.413+666_413+667del
NM_001395172.1:c.413+666_413+667del	NP_001382101.1:n.413+666_413+667del
NM_001395173.1:c.413+666_413+667del	NP_001382102.1:n.413+666_413+667del
NM_001395174.1:c.413+666_413+667del	NP_001382103.1:n.413+666_413+667del
NM_001395175.1:c.410+666_410+667del	NP_001382104.1:n.410+666_410+667del