Canonical Allele Identifier: CA10410529

Gene: CACNA1F

Linked Data

• dbSNP Id: rs781999760
• ExAC: X:49073000 C / CA
• gnomAD v2: X-49073000-C-CA
• gnomAD v3: X-49216540-C-CA
• gnomAD v4: X-49216540-C-CA
• MyVariant Identifiers: chrX:g.49073000_49073001insA (hg19) ; chrX:g.49216540_49216541insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216543dup , CM000685.2:g.49216543dup	GRCh38
NC_000023.10:g.49073003dup , CM000685.1:g.49073003dup	GRCh37
NC_000023.9:g.48959947dup	NCBI36
NG_009095.2:g.21826dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3090-13dup MANE Select	ENSP00000321618.6:n.3090-13dup
ENST00000323022.9:c.3090-13dup	ENSP00000321618.5:n.3090-13dup
ENST00000376251.5:c.2928-13dup	ENSP00000365427.1:n.2928-13dup
ENST00000376265.2:c.3123-13dup	ENSP00000365441.2:n.3123-13dup
NM_001256789.2:c.3090-13dup	NP_001243718.1:n.3090-13dup
NM_001256790.2:c.2928-13dup	NP_001243719.1:n.2928-13dup
NM_005183.3:c.3123-13dup	NP_005174.2:n.3123-13dup
XM_011543983.1:c.2928-13dup	XP_011542285.1:n.2928-13dup
XM_011543983.2:c.2928-13dup	XP_011542285.1:n.2928-13dup
XM_017029836.1:c.357-13dup	XP_016885325.1:n.357-13dup
NM_001256789.3:c.3090-13dup MANE Select	NP_001243718.1:n.3090-13dup
NM_001256790.3:c.2928-13dup	NP_001243719.1:n.2928-13dup
NM_005183.4:c.3123-13dup	NP_005174.2:n.3123-13dup