Canonical Allele Identifier: CA2820835041

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216104_49216331del , CM000685.2:g.49216104_49216331del	GRCh38
NC_000023.10:g.49072564_49072791del , CM000685.1:g.49072564_49072791del	GRCh37
NC_000023.9:g.48959508_48959735del	NCBI36
NG_009095.2:g.22044_22271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3236+59_3236+286del MANE Select	ENSP00000321618.6:n.3236+59_3236+286del
ENST00000323022.9:c.3236+59_3236+286del	ENSP00000321618.5:n.3236+59_3236+286del
ENST00000376251.5:c.3074+59_3074+286del	ENSP00000365427.1:n.3074+59_3074+286del
ENST00000376265.2:c.3269+59_3269+286del	ENSP00000365441.2:n.3269+59_3269+286del
NM_001256789.2:c.3236+59_3236+286del	NP_001243718.1:n.3236+59_3236+286del
NM_001256790.2:c.3074+59_3074+286del	NP_001243719.1:n.3074+59_3074+286del
NM_005183.3:c.3269+59_3269+286del	NP_005174.2:n.3269+59_3269+286del
XM_011543983.1:c.3074+59_3074+286del	XP_011542285.1:n.3074+59_3074+286del
XM_011543983.2:c.3074+59_3074+286del	XP_011542285.1:n.3074+59_3074+286del
XM_017029836.1:c.503+59_503+286del	XP_016885325.1:n.503+59_503+286del
NM_001256789.3:c.3236+59_3236+286del MANE Select	NP_001243718.1:n.3236+59_3236+286del
NM_001256790.3:c.3074+59_3074+286del	NP_001243719.1:n.3074+59_3074+286del
NM_005183.4:c.3269+59_3269+286del	NP_005174.2:n.3269+59_3269+286del