Canonical Allele Identifier: CA2820835227

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216643_49216644insACG , CM000685.2:g.49216643_49216644insACG	GRCh38
NC_000023.10:g.49073103_49073104insACG , CM000685.1:g.49073103_49073104insACG	GRCh37
NC_000023.9:g.48960047_48960048insACG	NCBI36
NG_009095.2:g.21723_21724insCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3090-116_3090-115insCGT MANE Select	ENSP00000321618.6:n.3090-116_3090-115insCGT
ENST00000323022.9:c.3090-116_3090-115insCGT	ENSP00000321618.5:n.3090-116_3090-115insCGT
ENST00000376251.5:c.2928-116_2928-115insCGT	ENSP00000365427.1:n.2928-116_2928-115insCGT
ENST00000376265.2:c.3123-116_3123-115insCGT	ENSP00000365441.2:n.3123-116_3123-115insCGT
NM_001256789.2:c.3090-116_3090-115insCGT	NP_001243718.1:n.3090-116_3090-115insCGT
NM_001256790.2:c.2928-116_2928-115insCGT	NP_001243719.1:n.2928-116_2928-115insCGT
NM_005183.3:c.3123-116_3123-115insCGT	NP_005174.2:n.3123-116_3123-115insCGT
XM_011543983.1:c.2928-116_2928-115insCGT	XP_011542285.1:n.2928-116_2928-115insCGT
XM_011543983.2:c.2928-116_2928-115insCGT	XP_011542285.1:n.2928-116_2928-115insCGT
XM_017029836.1:c.357-116_357-115insCGT	XP_016885325.1:n.357-116_357-115insCGT
NM_001256789.3:c.3090-116_3090-115insCGT MANE Select	NP_001243718.1:n.3090-116_3090-115insCGT
NM_001256790.3:c.2928-116_2928-115insCGT	NP_001243719.1:n.2928-116_2928-115insCGT
NM_005183.4:c.3123-116_3123-115insCGT	NP_005174.2:n.3123-116_3123-115insCGT