Canonical Allele Identifier: CA2820835531
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49218026_49218039del , CM000685.2:g.49218026_49218039del GRCh38
NC_000023.10:g.49074485_49074498del , CM000685.1:g.49074485_49074498del GRCh37
NC_000023.9:g.48961429_48961442del NCBI36
NG_009095.2:g.20329_20342del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.2929-33_2929-20del MANE Select ENSP00000321618.6:n.2929-33_2929-20del
ENST00000323022.9:c.2929-33_2929-20del ENSP00000321618.5:n.2929-33_2929-20del
ENST00000376251.5:c.2767-33_2767-20del ENSP00000365427.1:n.2767-33_2767-20del
ENST00000376265.2:c.2962-33_2962-20del ENSP00000365441.2:n.2962-33_2962-20del
NM_001256789.2:c.2929-33_2929-20del NP_001243718.1:n.2929-33_2929-20del
NM_001256790.2:c.2767-33_2767-20del NP_001243719.1:n.2767-33_2767-20del
NM_005183.3:c.2962-33_2962-20del NP_005174.2:n.2962-33_2962-20del
XM_011543983.1:c.2767-33_2767-20del XP_011542285.1:n.2767-33_2767-20del
XM_011543983.2:c.2767-33_2767-20del XP_011542285.1:n.2767-33_2767-20del
XM_017029836.1:c.196-33_196-20del XP_016885325.1:n.196-33_196-20del
NM_001256789.3:c.2929-33_2929-20del MANE Select NP_001243718.1:n.2929-33_2929-20del
NM_001256790.3:c.2767-33_2767-20del NP_001243719.1:n.2767-33_2767-20del
NM_005183.4:c.2962-33_2962-20del NP_005174.2:n.2962-33_2962-20del