Canonical Allele Identifier: CA2842013692
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49218471del , CM000685.2:g.49218471del GRCh38
NC_000023.10:g.49074930del , CM000685.1:g.49074930del GRCh37
NC_000023.9:g.48961874del NCBI36
NG_009095.2:g.19898del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.2914del MANE Select ENSP00000321618.6:p.Ala972ProfsTer22
ENST00000323022.9:c.2914del ENSP00000321618.5:p.Ala972ProfsTer22
ENST00000376251.5:c.2752del ENSP00000365427.1:p.Ala918ProfsTer22
ENST00000376265.2:c.2947del ENSP00000365441.2:p.Ala983ProfsTer22
NM_001256789.2:c.2914del NP_001243718.1:p.Ala972ProfsTer22
NM_001256790.2:c.2752del NP_001243719.1:p.Ala918ProfsTer22
NM_005183.3:c.2947del NP_005174.2:p.Ala983ProfsTer22
XM_011543983.1:c.2752del XP_011542285.1:p.Ala918ProfsTer22
XM_011543983.2:c.2752del XP_011542285.1:p.Ala918ProfsTer22
XM_017029836.1:c.181del XP_016885325.1:p.Ala61ProfsTer22
NM_001256789.3:c.2914del MANE Select NP_001243718.1:p.Ala972ProfsTer22
NM_001256790.3:c.2752del NP_001243719.1:p.Ala918ProfsTer22
NM_005183.4:c.2947del NP_005174.2:p.Ala983ProfsTer22