Canonical Allele Identifier: CA2561421505
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49218582_49218584del , CM000685.2:g.49218582_49218584del GRCh38
NC_000023.10:g.49075041_49075043del , CM000685.1:g.49075041_49075043del GRCh37
NC_000023.9:g.48961985_48961987del NCBI36
NG_009095.2:g.19783_19785del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.2841-42_2841-40del MANE Select ENSP00000321618.6:n.2841-42_2841-40del
ENST00000323022.9:c.2841-42_2841-40del ENSP00000321618.5:n.2841-42_2841-40del
ENST00000376251.5:c.2679-42_2679-40del ENSP00000365427.1:n.2679-42_2679-40del
ENST00000376265.2:c.2874-42_2874-40del ENSP00000365441.2:n.2874-42_2874-40del
NM_001256789.2:c.2841-42_2841-40del NP_001243718.1:n.2841-42_2841-40del
NM_001256790.2:c.2679-42_2679-40del NP_001243719.1:n.2679-42_2679-40del
NM_005183.3:c.2874-42_2874-40del NP_005174.2:n.2874-42_2874-40del
XM_011543983.1:c.2679-42_2679-40del XP_011542285.1:n.2679-42_2679-40del
XM_011543983.2:c.2679-42_2679-40del XP_011542285.1:n.2679-42_2679-40del
XM_017029836.1:c.108-42_108-40del XP_016885325.1:n.108-42_108-40del
NM_001256789.3:c.2841-42_2841-40del MANE Select NP_001243718.1:n.2841-42_2841-40del
NM_001256790.3:c.2679-42_2679-40del NP_001243719.1:n.2679-42_2679-40del
NM_005183.4:c.2874-42_2874-40del NP_005174.2:n.2874-42_2874-40del