Canonical Allele Identifier: CA2562033200
Gene: CHRNB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42732864_42732866del , CM000670.2:g.42732864_42732866del GRCh38
NC_000008.10:g.42588007_42588009del , CM000670.1:g.42588007_42588009del GRCh37
NC_000008.9:g.42707164_42707166del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289957.3:c.1242+315_1242+317del MANE Select ENSP00000289957.2:n.1242+315_1242+317del
ENST00000289957.2:c.1242+315_1242+317del ENSP00000289957.2:n.1242+315_1242+317del
NM_000749.3:c.1242+315_1242+317del NP_000740.1:n.1242+315_1242+317del
XM_011544390.1:c.855+315_855+317del XP_011542692.1:n.855+315_855+317del
NM_000749.4:c.1242+315_1242+317del NP_000740.1:n.1242+315_1242+317del
NM_001347717.1:c.1020+315_1020+317del NP_001334646.1:n.1020+315_1020+317del
XM_011544390.2:c.855+315_855+317del XP_011542692.1:n.855+315_855+317del
NM_000749.5:c.1242+315_1242+317del MANE Select NP_000740.1:n.1242+315_1242+317del
NM_001347717.2:c.1020+315_1020+317del NP_001334646.1:n.1020+315_1020+317del