Canonical Allele Identifier: CA2579607585

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216342del , CM000685.2:g.49216342del	GRCh38
NC_000023.10:g.49072802del , CM000685.1:g.49072802del	GRCh37
NC_000023.9:g.48959746del	NCBI36
NG_009095.2:g.22028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3236+43del MANE Select	ENSP00000321618.6:n.3236+43del
ENST00000323022.9:c.3236+43del	ENSP00000321618.5:n.3236+43del
ENST00000376251.5:c.3074+43del	ENSP00000365427.1:n.3074+43del
ENST00000376265.2:c.3269+43del	ENSP00000365441.2:n.3269+43del
NM_001256789.2:c.3236+43del	NP_001243718.1:n.3236+43del
NM_001256790.2:c.3074+43del	NP_001243719.1:n.3074+43del
NM_005183.3:c.3269+43del	NP_005174.2:n.3269+43del
XM_011543983.1:c.3074+43del	XP_011542285.1:n.3074+43del
XM_011543983.2:c.3074+43del	XP_011542285.1:n.3074+43del
XM_017029836.1:c.503+43del	XP_016885325.1:n.503+43del
NM_001256789.3:c.3236+43del MANE Select	NP_001243718.1:n.3236+43del
NM_001256790.3:c.3074+43del	NP_001243719.1:n.3074+43del
NM_005183.4:c.3269+43del	NP_005174.2:n.3269+43del