Canonical Allele Identifier: CA2523135349
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49218047_49218048insTGGCGGCCCCGGGG , CM000685.2:g.49218047_49218048insTGGCGGCCCCGGGG GRCh38
NC_000023.10:g.49074506_49074507insTGGCGGCCCCGGGG , CM000685.1:g.49074506_49074507insTGGCGGCCCCGGGG GRCh37
NC_000023.9:g.48961450_48961451insTGGCGGCCCCGGGG NCBI36
NG_009095.2:g.20319_20320insCCCCGGGGCCGCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.2929-43_2929-42insCCCCGGGGCCGCCA MANE Select ENSP00000321618.6:n.2929-43_2929-42insCCCCGGGGCCGCCA
ENST00000323022.9:c.2929-43_2929-42insCCCCGGGGCCGCCA ENSP00000321618.5:n.2929-43_2929-42insCCCCGGGGCCGCCA
ENST00000376251.5:c.2767-43_2767-42insCCCCGGGGCCGCCA ENSP00000365427.1:n.2767-43_2767-42insCCCCGGGGCCGCCA
ENST00000376265.2:c.2962-43_2962-42insCCCCGGGGCCGCCA ENSP00000365441.2:n.2962-43_2962-42insCCCCGGGGCCGCCA
NM_001256789.2:c.2929-43_2929-42insCCCCGGGGCCGCCA NP_001243718.1:n.2929-43_2929-42insCCCCGGGGCCGCCA
NM_001256790.2:c.2767-43_2767-42insCCCCGGGGCCGCCA NP_001243719.1:n.2767-43_2767-42insCCCCGGGGCCGCCA
NM_005183.3:c.2962-43_2962-42insCCCCGGGGCCGCCA NP_005174.2:n.2962-43_2962-42insCCCCGGGGCCGCCA
XM_011543983.1:c.2767-43_2767-42insCCCCGGGGCCGCCA XP_011542285.1:n.2767-43_2767-42insCCCCGGGGCCGCCA
XM_011543983.2:c.2767-43_2767-42insCCCCGGGGCCGCCA XP_011542285.1:n.2767-43_2767-42insCCCCGGGGCCGCCA
XM_017029836.1:c.196-43_196-42insCCCCGGGGCCGCCA XP_016885325.1:n.196-43_196-42insCCCCGGGGCCGCCA
NM_001256789.3:c.2929-43_2929-42insCCCCGGGGCCGCCA MANE Select NP_001243718.1:n.2929-43_2929-42insCCCCGGGGCCGCCA
NM_001256790.3:c.2767-43_2767-42insCCCCGGGGCCGCCA NP_001243719.1:n.2767-43_2767-42insCCCCGGGGCCGCCA
NM_005183.4:c.2962-43_2962-42insCCCCGGGGCCGCCA NP_005174.2:n.2962-43_2962-42insCCCCGGGGCCGCCA