Canonical Allele Identifier: CA2820835119

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216523del , CM000685.2:g.49216523del	GRCh38
NC_000023.10:g.49072983del , CM000685.1:g.49072983del	GRCh37
NC_000023.9:g.48959927del	NCBI36
NG_009095.2:g.21845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3096del MANE Select	ENSP00000321618.6:p.Phe1033SerfsTer?
ENST00000323022.9:c.3096del	ENSP00000321618.5:p.Phe1033SerfsTer?
ENST00000376251.5:c.2934del	ENSP00000365427.1:p.Phe979SerfsTer?
ENST00000376265.2:c.3129del	ENSP00000365441.2:p.Phe1044SerfsTer?
NM_001256789.2:c.3096del	NP_001243718.1:p.Phe1033SerfsTer?
NM_001256790.2:c.2934del	NP_001243719.1:p.Phe979SerfsTer?
NM_005183.3:c.3129del	NP_005174.2:p.Phe1044SerfsTer?
XM_011543983.1:c.2934del	XP_011542285.1:p.Phe979SerfsTer?
XM_011543983.2:c.2934del	XP_011542285.1:p.Phe979SerfsTer?
XM_017029836.1:c.363del	XP_016885325.1:p.Phe122SerfsTer?
NM_001256789.3:c.3096del MANE Select	NP_001243718.1:p.Phe1033SerfsTer?
NM_001256790.3:c.2934del	NP_001243719.1:p.Phe979SerfsTer?
NM_005183.4:c.3129del	NP_005174.2:p.Phe1044SerfsTer?