Canonical Allele Identifier: CA2820835528

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218011_49218013del , CM000685.2:g.49218011_49218013del	GRCh38
NC_000023.10:g.49074470_49074472del , CM000685.1:g.49074470_49074472del	GRCh37
NC_000023.9:g.48961414_48961416del	NCBI36
NG_009095.2:g.20354_20356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2929-8_2929-6del MANE Select	ENSP00000321618.6:n.2929-8_2929-6del
ENST00000323022.9:c.2929-8_2929-6del	ENSP00000321618.5:n.2929-8_2929-6del
ENST00000376251.5:c.2767-8_2767-6del	ENSP00000365427.1:n.2767-8_2767-6del
ENST00000376265.2:c.2962-8_2962-6del	ENSP00000365441.2:n.2962-8_2962-6del
NM_001256789.2:c.2929-8_2929-6del	NP_001243718.1:n.2929-8_2929-6del
NM_001256790.2:c.2767-8_2767-6del	NP_001243719.1:n.2767-8_2767-6del
NM_005183.3:c.2962-8_2962-6del	NP_005174.2:n.2962-8_2962-6del
XM_011543983.1:c.2767-8_2767-6del	XP_011542285.1:n.2767-8_2767-6del
XM_011543983.2:c.2767-8_2767-6del	XP_011542285.1:n.2767-8_2767-6del
XM_017029836.1:c.196-8_196-6del	XP_016885325.1:n.196-8_196-6del
NM_001256789.3:c.2929-8_2929-6del MANE Select	NP_001243718.1:n.2929-8_2929-6del
NM_001256790.3:c.2767-8_2767-6del	NP_001243719.1:n.2767-8_2767-6del
NM_005183.4:c.2962-8_2962-6del	NP_005174.2:n.2962-8_2962-6del