Canonical Allele Identifier: CA2509476953

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218530_49218531insCC , CM000685.2:g.49218530_49218531insCC	GRCh38
NC_000023.10:g.49074989_49074990insCC , CM000685.1:g.49074989_49074990insCC	GRCh37
NC_000023.9:g.48961933_48961934insCC	NCBI36
NG_009095.2:g.19836_19837insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2852_2853insGG MANE Select	ENSP00000321618.6:p.Ile951MetfsTer5
ENST00000323022.9:c.2852_2853insGG	ENSP00000321618.5:p.Ile951MetfsTer5
ENST00000376251.5:c.2690_2691insGG	ENSP00000365427.1:p.Ile897MetfsTer5
ENST00000376265.2:c.2885_2886insGG	ENSP00000365441.2:p.Ile962MetfsTer5
NM_001256789.2:c.2852_2853insGG	NP_001243718.1:p.Ile951MetfsTer5
NM_001256790.2:c.2690_2691insGG	NP_001243719.1:p.Ile897MetfsTer5
NM_005183.3:c.2885_2886insGG	NP_005174.2:p.Ile962MetfsTer5
XM_011543983.1:c.2690_2691insGG	XP_011542285.1:p.Ile897MetfsTer5
XM_011543983.2:c.2690_2691insGG	XP_011542285.1:p.Ile897MetfsTer5
XM_017029836.1:c.119_120insGG	XP_016885325.1:p.Ile40MetfsTer5
NM_001256789.3:c.2852_2853insGG MANE Select	NP_001243718.1:p.Ile951MetfsTer5
NM_001256790.3:c.2690_2691insGG	NP_001243719.1:p.Ile897MetfsTer5
NM_005183.4:c.2885_2886insGG	NP_005174.2:p.Ile962MetfsTer5