Canonical Allele Identifier: CA2693707824

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49218009-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218012del , CM000685.2:g.49218012del	GRCh38
NC_000023.10:g.49074471del , CM000685.1:g.49074471del	GRCh37
NC_000023.9:g.48961415del	NCBI36
NG_009095.2:g.20357del

Transcript Alleles

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