Canonical Allele Identifier: CA2820835066

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216297_49216300del , CM000685.2:g.49216297_49216300del	GRCh38
NC_000023.10:g.49072757_49072760del , CM000685.1:g.49072757_49072760del	GRCh37
NC_000023.9:g.48959701_48959704del	NCBI36
NG_009095.2:g.22068_22071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3236+83_3236+86del MANE Select	ENSP00000321618.6:n.3236+83_3236+86del
ENST00000323022.9:c.3236+83_3236+86del	ENSP00000321618.5:n.3236+83_3236+86del
ENST00000376251.5:c.3074+83_3074+86del	ENSP00000365427.1:n.3074+83_3074+86del
ENST00000376265.2:c.3269+83_3269+86del	ENSP00000365441.2:n.3269+83_3269+86del
NM_001256789.2:c.3236+83_3236+86del	NP_001243718.1:n.3236+83_3236+86del
NM_001256790.2:c.3074+83_3074+86del	NP_001243719.1:n.3074+83_3074+86del
NM_005183.3:c.3269+83_3269+86del	NP_005174.2:n.3269+83_3269+86del
XM_011543983.1:c.3074+83_3074+86del	XP_011542285.1:n.3074+83_3074+86del
XM_011543983.2:c.3074+83_3074+86del	XP_011542285.1:n.3074+83_3074+86del
XM_017029836.1:c.503+83_503+86del	XP_016885325.1:n.503+83_503+86del
NM_001256789.3:c.3236+83_3236+86del MANE Select	NP_001243718.1:n.3236+83_3236+86del
NM_001256790.3:c.3074+83_3074+86del	NP_001243719.1:n.3074+83_3074+86del
NM_005183.4:c.3269+83_3269+86del	NP_005174.2:n.3269+83_3269+86del