Canonical Allele Identifier: CA2579607667
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49218446del , CM000685.2:g.49218446del GRCh38
NC_000023.10:g.49074905del , CM000685.1:g.49074905del GRCh37
NC_000023.9:g.48961849del NCBI36
NG_009095.2:g.19921del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.2928+9del MANE Select ENSP00000321618.6:n.2928+9del
ENST00000323022.9:c.2928+9del ENSP00000321618.5:n.2928+9del
ENST00000376251.5:c.2766+9del ENSP00000365427.1:n.2766+9del
ENST00000376265.2:c.2961+9del ENSP00000365441.2:n.2961+9del
NM_001256789.2:c.2928+9del NP_001243718.1:n.2928+9del
NM_001256790.2:c.2766+9del NP_001243719.1:n.2766+9del
NM_005183.3:c.2961+9del NP_005174.2:n.2961+9del
XM_011543983.1:c.2766+9del XP_011542285.1:n.2766+9del
XM_011543983.2:c.2766+9del XP_011542285.1:n.2766+9del
XM_017029836.1:c.195+9del XP_016885325.1:n.195+9del
NM_001256789.3:c.2928+9del MANE Select NP_001243718.1:n.2928+9del
NM_001256790.3:c.2766+9del NP_001243719.1:n.2766+9del
NM_005183.4:c.2961+9del NP_005174.2:n.2961+9del