Canonical Allele Identifier: CA2820835536

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218059_49218061del , CM000685.2:g.49218059_49218061del	GRCh38
NC_000023.10:g.49074518_49074520del , CM000685.1:g.49074518_49074520del	GRCh37
NC_000023.9:g.48961462_48961464del	NCBI36
NG_009095.2:g.20307_20309del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2929-55_2929-53del MANE Select	ENSP00000321618.6:n.2929-55_2929-53del
ENST00000323022.9:c.2929-55_2929-53del	ENSP00000321618.5:n.2929-55_2929-53del
ENST00000376251.5:c.2767-55_2767-53del	ENSP00000365427.1:n.2767-55_2767-53del
ENST00000376265.2:c.2962-55_2962-53del	ENSP00000365441.2:n.2962-55_2962-53del
NM_001256789.2:c.2929-55_2929-53del	NP_001243718.1:n.2929-55_2929-53del
NM_001256790.2:c.2767-55_2767-53del	NP_001243719.1:n.2767-55_2767-53del
NM_005183.3:c.2962-55_2962-53del	NP_005174.2:n.2962-55_2962-53del
XM_011543983.1:c.2767-55_2767-53del	XP_011542285.1:n.2767-55_2767-53del
XM_011543983.2:c.2767-55_2767-53del	XP_011542285.1:n.2767-55_2767-53del
XM_017029836.1:c.196-55_196-53del	XP_016885325.1:n.196-55_196-53del
NM_001256789.3:c.2929-55_2929-53del MANE Select	NP_001243718.1:n.2929-55_2929-53del
NM_001256790.3:c.2767-55_2767-53del	NP_001243719.1:n.2767-55_2767-53del
NM_005183.4:c.2962-55_2962-53del	NP_005174.2:n.2962-55_2962-53del