Canonical Allele Identifier: CA2820835183
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49216623_49216629del , CM000685.2:g.49216623_49216629del GRCh38
NC_000023.10:g.49073083_49073089del , CM000685.1:g.49073083_49073089del GRCh37
NC_000023.9:g.48960027_48960033del NCBI36
NG_009095.2:g.21738_21744del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.3090-101_3090-95del MANE Select ENSP00000321618.6:n.3090-101_3090-95del
ENST00000323022.9:c.3090-101_3090-95del ENSP00000321618.5:n.3090-101_3090-95del
ENST00000376251.5:c.2928-101_2928-95del ENSP00000365427.1:n.2928-101_2928-95del
ENST00000376265.2:c.3123-101_3123-95del ENSP00000365441.2:n.3123-101_3123-95del
NM_001256789.2:c.3090-101_3090-95del NP_001243718.1:n.3090-101_3090-95del
NM_001256790.2:c.2928-101_2928-95del NP_001243719.1:n.2928-101_2928-95del
NM_005183.3:c.3123-101_3123-95del NP_005174.2:n.3123-101_3123-95del
XM_011543983.1:c.2928-101_2928-95del XP_011542285.1:n.2928-101_2928-95del
XM_011543983.2:c.2928-101_2928-95del XP_011542285.1:n.2928-101_2928-95del
XM_017029836.1:c.357-101_357-95del XP_016885325.1:n.357-101_357-95del
NM_001256789.3:c.3090-101_3090-95del MANE Select NP_001243718.1:n.3090-101_3090-95del
NM_001256790.3:c.2928-101_2928-95del NP_001243719.1:n.2928-101_2928-95del
NM_005183.4:c.3123-101_3123-95del NP_005174.2:n.3123-101_3123-95del