Canonical Allele Identifier: CA2428539665

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216271_49216272delinsAC , CM000685.2:g.49216271_49216272delinsAC	GRCh38
NC_000023.10:g.49072731_49072732delinsAC , CM000685.1:g.49072731_49072732delinsAC	GRCh37
NC_000023.9:g.48959675_48959676delinsAC	NCBI36
NG_009095.2:g.22095_22096delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3236+110_3236+111delinsGT MANE Select	ENSP00000321618.6:n.3236+110_3236+111delinsGT
ENST00000323022.9:c.3236+110_3236+111delinsGT	ENSP00000321618.5:n.3236+110_3236+111delinsGT
ENST00000376251.5:c.3074+110_3074+111delinsGT	ENSP00000365427.1:n.3074+110_3074+111delinsGT
ENST00000376265.2:c.3269+110_3269+111delinsGT	ENSP00000365441.2:n.3269+110_3269+111delinsGT
NM_001256789.2:c.3236+110_3236+111delinsGT	NP_001243718.1:n.3236+110_3236+111delinsGT
NM_001256790.2:c.3074+110_3074+111delinsGT	NP_001243719.1:n.3074+110_3074+111delinsGT
NM_005183.3:c.3269+110_3269+111delinsGT	NP_005174.2:n.3269+110_3269+111delinsGT
XM_011543983.1:c.3074+110_3074+111delinsGT	XP_011542285.1:n.3074+110_3074+111delinsGT
XM_011543983.2:c.3074+110_3074+111delinsGT	XP_011542285.1:n.3074+110_3074+111delinsGT
XM_017029836.1:c.503+110_503+111delinsGT	XP_016885325.1:n.503+110_503+111delinsGT
NM_001256789.3:c.3236+110_3236+111delinsGT MANE Select	NP_001243718.1:n.3236+110_3236+111delinsGT
NM_001256790.3:c.3074+110_3074+111delinsGT	NP_001243719.1:n.3074+110_3074+111delinsGT
NM_005183.4:c.3269+110_3269+111delinsGT	NP_005174.2:n.3269+110_3269+111delinsGT