Canonical Allele Identifier: CA2820835123

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216525_49216527del , CM000685.2:g.49216525_49216527del	GRCh38
NC_000023.10:g.49072985_49072987del , CM000685.1:g.49072985_49072987del	GRCh37
NC_000023.9:g.48959929_48959931del	NCBI36
NG_009095.2:g.21840_21842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3091_3093del MANE Select	ENSP00000321618.6:p.Gly1031del
ENST00000323022.9:c.3091_3093del	ENSP00000321618.5:p.Gly1031del
ENST00000376251.5:c.2929_2931del	ENSP00000365427.1:p.Gly977del
ENST00000376265.2:c.3124_3126del	ENSP00000365441.2:p.Gly1042del
NM_001256789.2:c.3091_3093del	NP_001243718.1:p.Gly1031del
NM_001256790.2:c.2929_2931del	NP_001243719.1:p.Gly977del
NM_005183.3:c.3124_3126del	NP_005174.2:p.Gly1042del
XM_011543983.1:c.2929_2931del	XP_011542285.1:p.Gly977del
XM_011543983.2:c.2929_2931del	XP_011542285.1:p.Gly977del
XM_017029836.1:c.358_360del	XP_016885325.1:p.Gly120del
NM_001256789.3:c.3091_3093del MANE Select	NP_001243718.1:p.Gly1031del
NM_001256790.3:c.2929_2931del	NP_001243719.1:p.Gly977del
NM_005183.4:c.3124_3126del	NP_005174.2:p.Gly1042del