Canonical Allele Identifier: CA2579607588

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216488del , CM000685.2:g.49216488del	GRCh38
NC_000023.10:g.49072948del , CM000685.1:g.49072948del	GRCh37
NC_000023.9:g.48959892del	NCBI36
NG_009095.2:g.21882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3133del MANE Select	ENSP00000321618.6:p.Leu1045TrpfsTer21
ENST00000323022.9:c.3133del	ENSP00000321618.5:p.Leu1045TrpfsTer21
ENST00000376251.5:c.2971del	ENSP00000365427.1:p.Leu991TrpfsTer21
ENST00000376265.2:c.3166del	ENSP00000365441.2:p.Leu1056TrpfsTer21
NM_001256789.2:c.3133del	NP_001243718.1:p.Leu1045TrpfsTer21
NM_001256790.2:c.2971del	NP_001243719.1:p.Leu991TrpfsTer21
NM_005183.3:c.3166del	NP_005174.2:p.Leu1056TrpfsTer21
XM_011543983.1:c.2971del	XP_011542285.1:p.Leu991TrpfsTer21
XM_011543983.2:c.2971del	XP_011542285.1:p.Leu991TrpfsTer21
XM_017029836.1:c.400del	XP_016885325.1:p.Leu134TrpfsTer21
NM_001256789.3:c.3133del MANE Select	NP_001243718.1:p.Leu1045TrpfsTer21
NM_001256790.3:c.2971del	NP_001243719.1:p.Leu991TrpfsTer21
NM_005183.4:c.3166del	NP_005174.2:p.Leu1056TrpfsTer21