Canonical Allele Identifier: CA2693707788

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49217998-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218000del , CM000685.2:g.49218000del	GRCh38
NC_000023.10:g.49074459del , CM000685.1:g.49074459del	GRCh37
NC_000023.9:g.48961403del	NCBI36
NG_009095.2:g.20368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2935del MANE Select	ENSP00000321618.6:p.Val979CysfsTer15
ENST00000323022.9:c.2935del	ENSP00000321618.5:p.Val979CysfsTer15
ENST00000376251.5:c.2773del	ENSP00000365427.1:p.Val925CysfsTer15
ENST00000376265.2:c.2968del	ENSP00000365441.2:p.Val990CysfsTer15
NM_001256789.2:c.2935del	NP_001243718.1:p.Val979CysfsTer15
NM_001256790.2:c.2773del	NP_001243719.1:p.Val925CysfsTer15
NM_005183.3:c.2968del	NP_005174.2:p.Val990CysfsTer15
XM_011543983.1:c.2773del	XP_011542285.1:p.Val925CysfsTer15
XM_011543983.2:c.2773del	XP_011542285.1:p.Val925CysfsTer15
XM_017029836.1:c.202del	XP_016885325.1:p.Val68CysfsTer15
NM_001256789.3:c.2935del MANE Select	NP_001243718.1:p.Val979CysfsTer15
NM_001256790.3:c.2773del	NP_001243719.1:p.Val925CysfsTer15
NM_005183.4:c.2968del	NP_005174.2:p.Val990CysfsTer15