Canonical Allele Identifier: CA916084263
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49217755_49221080del , CM000685.2:g.49217755_49221080del GRCh38
NG_009095.2:g.17288_20613del

Transcript Alleles

HGVS Amino-acid change
ENST00000323022.10:c.2290_3089+1del
ENST00000323022.9:c.2290_3089+1del
ENST00000376251.5:c.2128_2927+1del
ENST00000376265.2:c.2323_3122+1del
NM_001256789.2:c.2290_3089+1del
NM_001256790.2:c.2128_2927+1del
NM_005183.3:c.2323_3122+1del
XM_011543983.1:c.2128_2927+1del
XM_011543983.2:c.2128_2927+1del
NM_001256789.3:c.2290_3089+1del
NM_001256790.3:c.2128_2927+1del
NM_005183.4:c.2323_3122+1del