Canonical Allele Identifier: CA2820835155
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49216595_49216604del , CM000685.2:g.49216595_49216604del GRCh38
NC_000023.10:g.49073055_49073064del , CM000685.1:g.49073055_49073064del GRCh37
NC_000023.9:g.48959999_48960008del NCBI36
NG_009095.2:g.21763_21772del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.3090-76_3090-67del MANE Select ENSP00000321618.6:n.3090-76_3090-67del
ENST00000323022.9:c.3090-76_3090-67del ENSP00000321618.5:n.3090-76_3090-67del
ENST00000376251.5:c.2928-76_2928-67del ENSP00000365427.1:n.2928-76_2928-67del
ENST00000376265.2:c.3123-76_3123-67del ENSP00000365441.2:n.3123-76_3123-67del
NM_001256789.2:c.3090-76_3090-67del NP_001243718.1:n.3090-76_3090-67del
NM_001256790.2:c.2928-76_2928-67del NP_001243719.1:n.2928-76_2928-67del
NM_005183.3:c.3123-76_3123-67del NP_005174.2:n.3123-76_3123-67del
XM_011543983.1:c.2928-76_2928-67del XP_011542285.1:n.2928-76_2928-67del
XM_011543983.2:c.2928-76_2928-67del XP_011542285.1:n.2928-76_2928-67del
XM_017029836.1:c.357-76_357-67del XP_016885325.1:n.357-76_357-67del
NM_001256789.3:c.3090-76_3090-67del MANE Select NP_001243718.1:n.3090-76_3090-67del
NM_001256790.3:c.2928-76_2928-67del NP_001243719.1:n.2928-76_2928-67del
NM_005183.4:c.3123-76_3123-67del NP_005174.2:n.3123-76_3123-67del