Canonical Allele Identifier: CA2820835165
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49216606_49216610del , CM000685.2:g.49216606_49216610del GRCh38
NC_000023.10:g.49073066_49073070del , CM000685.1:g.49073066_49073070del GRCh37
NC_000023.9:g.48960010_48960014del NCBI36
NG_009095.2:g.21757_21761del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.3090-82_3090-78del MANE Select ENSP00000321618.6:n.3090-82_3090-78del
ENST00000323022.9:c.3090-82_3090-78del ENSP00000321618.5:n.3090-82_3090-78del
ENST00000376251.5:c.2928-82_2928-78del ENSP00000365427.1:n.2928-82_2928-78del
ENST00000376265.2:c.3123-82_3123-78del ENSP00000365441.2:n.3123-82_3123-78del
NM_001256789.2:c.3090-82_3090-78del NP_001243718.1:n.3090-82_3090-78del
NM_001256790.2:c.2928-82_2928-78del NP_001243719.1:n.2928-82_2928-78del
NM_005183.3:c.3123-82_3123-78del NP_005174.2:n.3123-82_3123-78del
XM_011543983.1:c.2928-82_2928-78del XP_011542285.1:n.2928-82_2928-78del
XM_011543983.2:c.2928-82_2928-78del XP_011542285.1:n.2928-82_2928-78del
XM_017029836.1:c.357-82_357-78del XP_016885325.1:n.357-82_357-78del
NM_001256789.3:c.3090-82_3090-78del MANE Select NP_001243718.1:n.3090-82_3090-78del
NM_001256790.3:c.2928-82_2928-78del NP_001243719.1:n.2928-82_2928-78del
NM_005183.4:c.3123-82_3123-78del NP_005174.2:n.3123-82_3123-78del