Canonical Allele Identifier: CA2693707885

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49218042-AGGCCACAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218045_49218053del , CM000685.2:g.49218045_49218053del	GRCh38
NC_000023.10:g.49074504_49074512del , CM000685.1:g.49074504_49074512del	GRCh37
NC_000023.9:g.48961448_48961456del	NCBI36
NG_009095.2:g.20316_20324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2929-46_2929-38del MANE Select	ENSP00000321618.6:n.2929-46_2929-38del
ENST00000323022.9:c.2929-46_2929-38del	ENSP00000321618.5:n.2929-46_2929-38del
ENST00000376251.5:c.2767-46_2767-38del	ENSP00000365427.1:n.2767-46_2767-38del
ENST00000376265.2:c.2962-46_2962-38del	ENSP00000365441.2:n.2962-46_2962-38del
NM_001256789.2:c.2929-46_2929-38del	NP_001243718.1:n.2929-46_2929-38del
NM_001256790.2:c.2767-46_2767-38del	NP_001243719.1:n.2767-46_2767-38del
NM_005183.3:c.2962-46_2962-38del	NP_005174.2:n.2962-46_2962-38del
XM_011543983.1:c.2767-46_2767-38del	XP_011542285.1:n.2767-46_2767-38del
XM_011543983.2:c.2767-46_2767-38del	XP_011542285.1:n.2767-46_2767-38del
XM_017029836.1:c.196-46_196-38del	XP_016885325.1:n.196-46_196-38del
NM_001256789.3:c.2929-46_2929-38del MANE Select	NP_001243718.1:n.2929-46_2929-38del
NM_001256790.3:c.2767-46_2767-38del	NP_001243719.1:n.2767-46_2767-38del
NM_005183.4:c.2962-46_2962-38del	NP_005174.2:n.2962-46_2962-38del