Canonical Allele Identifier: CA2573158887
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49205281_49205282delinsAT , CM000685.2:g.49205281_49205282delinsAT GRCh38
NC_000023.10:g.49061741_49061742delinsAT , CM000685.1:g.49061741_49061742delinsAT GRCh37
NC_000023.9:g.48948685_48948686delinsAT NCBI36
NG_009095.2:g.33085_33086delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.5756_5757delinsAT MANE Select ENSP00000321618.6:p.Arg1919His
ENST00000323022.9:c.5756_5757delinsAT ENSP00000321618.5:p.Arg1919His
ENST00000376251.5:c.5594_5595delinsAT ENSP00000365427.1:p.Arg1865His
ENST00000376265.2:c.5789_5790delinsAT ENSP00000365441.2:p.Arg1930His
NM_001256789.2:c.5756_5757delinsAT NP_001243718.1:p.Arg1919His
NM_001256790.2:c.5594_5595delinsAT NP_001243719.1:p.Arg1865His
NM_005183.3:c.5789_5790delinsAT NP_005174.2:p.Arg1930His
XM_011543983.1:c.5573_5574delinsAT XP_011542285.1:p.Arg1858His
XM_011543983.2:c.5573_5574delinsAT XP_011542285.1:p.Arg1858His
XM_017029836.1:c.2939_2940delinsAT XP_016885325.1:p.Arg980His
NM_001256789.3:c.5756_5757delinsAT MANE Select NP_001243718.1:p.Arg1919His
NM_001256790.3:c.5594_5595delinsAT NP_001243719.1:p.Arg1865His
NM_005183.4:c.5789_5790delinsAT NP_005174.2:p.Arg1930His