Canonical Allele Identifier: CA2536083472
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49218041_49218042insCGCCCGC , CM000685.2:g.49218041_49218042insCGCCCGC GRCh38
NC_000023.10:g.49074500_49074501insCGCCCGC , CM000685.1:g.49074500_49074501insCGCCCGC GRCh37
NC_000023.9:g.48961444_48961445insCGCCCGC NCBI36
NG_009095.2:g.20326_20327insCGGGCGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.2929-36_2929-35insCGGGCGG MANE Select ENSP00000321618.6:n.2929-36_2929-35insCGGGCGG
ENST00000323022.9:c.2929-36_2929-35insCGGGCGG ENSP00000321618.5:n.2929-36_2929-35insCGGGCGG
ENST00000376251.5:c.2767-36_2767-35insCGGGCGG ENSP00000365427.1:n.2767-36_2767-35insCGGGCGG
ENST00000376265.2:c.2962-36_2962-35insCGGGCGG ENSP00000365441.2:n.2962-36_2962-35insCGGGCGG
NM_001256789.2:c.2929-36_2929-35insCGGGCGG NP_001243718.1:n.2929-36_2929-35insCGGGCGG
NM_001256790.2:c.2767-36_2767-35insCGGGCGG NP_001243719.1:n.2767-36_2767-35insCGGGCGG
NM_005183.3:c.2962-36_2962-35insCGGGCGG NP_005174.2:n.2962-36_2962-35insCGGGCGG
XM_011543983.1:c.2767-36_2767-35insCGGGCGG XP_011542285.1:n.2767-36_2767-35insCGGGCGG
XM_011543983.2:c.2767-36_2767-35insCGGGCGG XP_011542285.1:n.2767-36_2767-35insCGGGCGG
XM_017029836.1:c.196-36_196-35insCGGGCGG XP_016885325.1:n.196-36_196-35insCGGGCGG
NM_001256789.3:c.2929-36_2929-35insCGGGCGG MANE Select NP_001243718.1:n.2929-36_2929-35insCGGGCGG
NM_001256790.3:c.2767-36_2767-35insCGGGCGG NP_001243719.1:n.2767-36_2767-35insCGGGCGG
NM_005183.4:c.2962-36_2962-35insCGGGCGG NP_005174.2:n.2962-36_2962-35insCGGGCGG