Canonical Allele Identifier: CA2573130271

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49224784del , CM000685.2:g.49224784del	GRCh38
NC_000023.10:g.49081246del , CM000685.1:g.49081246del	GRCh37
NC_000023.9:g.48968190del	NCBI36
NG_009095.2:g.13584del

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.1855del MANE Select	NP_001243718.1:p.Leu619SerfsTer13
ENST00000323022.10:c.1855del MANE Select	ENSP00000321618.6:p.Leu619SerfsTer13
NM_001256789.2:c.1855del	NP_001243718.1:p.Leu619SerfsTer13
NM_001256790.2:c.1693del	NP_001243719.1:p.Leu565SerfsTer13
NM_001256790.3:c.1693del	NP_001243719.1:p.Leu565SerfsTer13
NM_005183.3:c.1888del	NP_005174.2:p.Leu630SerfsTer13
NM_005183.4:c.1888del	NP_005174.2:p.Leu630SerfsTer13
ENST00000323022.9:c.1855del	ENSP00000321618.5:p.Leu619SerfsTer13
ENST00000376251.5:c.1693del	ENSP00000365427.1:p.Leu565SerfsTer13
ENST00000376265.2:c.1888del	ENSP00000365441.2:p.Leu630SerfsTer13
XM_011543983.1:c.1693del	XP_011542285.1:p.Leu565SerfsTer13
XM_011543983.2:c.1693del	XP_011542285.1:p.Leu565SerfsTer13