Canonical Allele Identifier: CA60857611
Community Standard Title: NM_000079.4(CHRNA1):c.44-298_44-297del
Gene: CHRNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174759958_174759959del , CM000664.2:g.174759958_174759959del GRCh38
NC_000002.11:g.175624686_175624687del , CM000664.1:g.175624686_175624687del GRCh37
NC_000002.10:g.175332932_175332933del NCBI36
NG_008172.1:g.9542_9543del

Transcript Alleles

HGVS Amino-acid Change
NM_000079.4:c.44-298_44-297del MANE Select NP_000070.1:n.44-298_44-297del
ENST00000348749.9:c.44-298_44-297del MANE Select ENSP00000261008.5:n.44-298_44-297del
NM_000079.3:c.44-298_44-297del NP_000070.1:n.44-298_44-297del
NM_001039523.2:c.44-298_44-297del NP_001034612.1:n.44-298_44-297del
NM_001039523.3:c.44-298_44-297del NP_001034612.1:n.44-298_44-297del
ENST00000261007.9:c.44-298_44-297del ENSP00000261007.5:n.44-298_44-297del
ENST00000409219.5:c.44-298_44-297del ENSP00000386611.1:n.44-298_44-297del
ENST00000409323.1:c.44-298_44-297del ENSP00000386684.1:n.44-298_44-297del
ENST00000409542.5:c.44-298_44-297del ENSP00000387026.1:n.44-298_44-297del
ENST00000435083.5:c.44-298_44-297del ENSP00000395805.1:n.44-298_44-297del
ENST00000636168.2:c.-446-298_-446-297del ENSP00000490338.2:n.-446-298_-446-297del
ENST00000672640.1:c.-446-298_-446-297del ENSP00000500507.1:n.-446-298_-446-297del