Canonical Allele Identifier: CA2579607624

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217975_49217976del , CM000685.2:g.49217975_49217976del	GRCh38
NC_000023.10:g.49074434_49074435del , CM000685.1:g.49074434_49074435del	GRCh37
NC_000023.9:g.48961378_48961379del	NCBI36
NG_009095.2:g.20391_20392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2958_2959del MANE Select	ENSP00000321618.6:p.Ile986MetfsTer?
ENST00000323022.9:c.2958_2959del	ENSP00000321618.5:p.Ile986MetfsTer?
ENST00000376251.5:c.2796_2797del	ENSP00000365427.1:p.Ile932MetfsTer?
ENST00000376265.2:c.2991_2992del	ENSP00000365441.2:p.Ile997MetfsTer?
NM_001256789.2:c.2958_2959del	NP_001243718.1:p.Ile986MetfsTer?
NM_001256790.2:c.2796_2797del	NP_001243719.1:p.Ile932MetfsTer?
NM_005183.3:c.2991_2992del	NP_005174.2:p.Ile997MetfsTer?
XM_011543983.1:c.2796_2797del	XP_011542285.1:p.Ile932MetfsTer?
XM_011543983.2:c.2796_2797del	XP_011542285.1:p.Ile932MetfsTer?
XM_017029836.1:c.225_226del	XP_016885325.1:p.Ile75MetfsTer?
NM_001256789.3:c.2958_2959del MANE Select	NP_001243718.1:p.Ile986MetfsTer?
NM_001256790.3:c.2796_2797del	NP_001243719.1:p.Ile932MetfsTer?
NM_005183.4:c.2991_2992del	NP_005174.2:p.Ile997MetfsTer?