Canonical Allele Identifier: CA2579607593

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49216575-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216579del , CM000685.2:g.49216579del	GRCh38
NC_000023.10:g.49073039del , CM000685.1:g.49073039del	GRCh37
NC_000023.9:g.48959983del	NCBI36
NG_009095.2:g.21791del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3090-48del MANE Select	ENSP00000321618.6:n.3090-48del
ENST00000323022.9:c.3090-48del	ENSP00000321618.5:n.3090-48del
ENST00000376251.5:c.2928-48del	ENSP00000365427.1:n.2928-48del
ENST00000376265.2:c.3123-48del	ENSP00000365441.2:n.3123-48del
NM_001256789.2:c.3090-48del	NP_001243718.1:n.3090-48del
NM_001256790.2:c.2928-48del	NP_001243719.1:n.2928-48del
NM_005183.3:c.3123-48del	NP_005174.2:n.3123-48del
XM_011543983.1:c.2928-48del	XP_011542285.1:n.2928-48del
XM_011543983.2:c.2928-48del	XP_011542285.1:n.2928-48del
XM_017029836.1:c.357-48del	XP_016885325.1:n.357-48del
NM_001256789.3:c.3090-48del MANE Select	NP_001243718.1:n.3090-48del
NM_001256790.3:c.2928-48del	NP_001243719.1:n.2928-48del
NM_005183.4:c.3123-48del	NP_005174.2:n.3123-48del