Canonical Allele Identifier: CA2832528718

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216484dup , CM000685.2:g.49216484dup	GRCh38
NC_000023.10:g.49072944dup , CM000685.1:g.49072944dup	GRCh37
NC_000023.9:g.48959888dup	NCBI36
NG_009095.2:g.21883dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3134dup MANE Select	ENSP00000321618.6:p.Val1046GlyfsTer10
ENST00000323022.9:c.3134dup	ENSP00000321618.5:p.Val1046GlyfsTer10
ENST00000376251.5:c.2972dup	ENSP00000365427.1:p.Val992GlyfsTer10
ENST00000376265.2:c.3167dup	ENSP00000365441.2:p.Val1057GlyfsTer10
NM_001256789.2:c.3134dup	NP_001243718.1:p.Val1046GlyfsTer10
NM_001256790.2:c.2972dup	NP_001243719.1:p.Val992GlyfsTer10
NM_005183.3:c.3167dup	NP_005174.2:p.Val1057GlyfsTer10
XM_011543983.1:c.2972dup	XP_011542285.1:p.Val992GlyfsTer10
XM_011543983.2:c.2972dup	XP_011542285.1:p.Val992GlyfsTer10
XM_017029836.1:c.401dup	XP_016885325.1:p.Val135GlyfsTer10
NM_001256789.3:c.3134dup MANE Select	NP_001243718.1:p.Val1046GlyfsTer10
NM_001256790.3:c.2972dup	NP_001243719.1:p.Val992GlyfsTer10
NM_005183.4:c.3167dup	NP_005174.2:p.Val1057GlyfsTer10