Canonical Allele Identifier: CA2499226847
Community Standard Title: NM_052957.5(GCNA):c.343del (p.Ala115ProfsTer7)
Gene: GCNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71603620del , CM000685.2:g.71603620del GRCh38
NC_000023.10:g.70823470del , CM000685.1:g.70823470del GRCh37
NC_000023.9:g.70740195del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_052957.5:c.343del MANE Select NP_443189.1:p.Ala115ProfsTer7
ENST00000373696.8:c.343del MANE Select ENSP00000362800.3:p.Ala115ProfsTer7
NM_052957.4:c.343del NP_443189.1:p.Ala115ProfsTer7
ENST00000373695.1:c.343del ENSP00000362799.1:p.Ala115ProfsTer7
ENST00000373696.7:c.343del ENSP00000362800.3:p.Ala115ProfsTer7
XM_006724716.2:c.343del XP_006724779.1:p.Ala115ProfsTer7
XM_006724716.3:c.343del XP_006724779.1:p.Ala115ProfsTer7
XM_011531063.1:c.370del XP_011529365.1:p.Ala124ProfsTer7
XM_011531063.3:c.370del XP_011529365.1:p.Ala124ProfsTer7
XM_011531064.1:c.343del XP_011529366.1:p.Ala115ProfsTer7
XM_011531065.1:c.343del XP_011529367.1:p.Ala115ProfsTer7
XM_011531066.1:c.289del XP_011529368.1:p.Ala97ProfsTer7
XM_011531066.3:c.289del XP_011529368.1:p.Ala97ProfsTer7
XM_011531067.1:c.289del XP_011529369.1:p.Ala97ProfsTer7
XM_011531067.3:c.289del XP_011529369.1:p.Ala97ProfsTer7
XM_017029965.1:c.343del XP_016885454.1:p.Ala115ProfsTer7