Canonical Allele Identifier: CA10410589

Gene: CACNA1F

Linked Data

• dbSNP Id: rs782347788
• ExAC: X:49075028 T / TGGCCCTGGCTG
• gnomAD v3: X-49218569-T-TGGCCCTGGCTG
• gnomAD v4: X-49218569-T-TGGCCCTGGCTG
• MyVariant Identifiers: chrX:g.49075028_49075029insGGCCCTGGCTG (hg19) ; chrX:g.49218569_49218570insGGCCCTGGCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218581_49218591dup , CM000685.2:g.49218581_49218591dup	GRCh38
NC_000023.10:g.49075040_49075050dup , CM000685.1:g.49075040_49075050dup	GRCh37
NC_000023.9:g.48961984_48961994dup	NCBI36
NG_009095.2:g.19787_19797dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2841-38_2841-28dup MANE Select	ENSP00000321618.6:n.2841-38_2841-28dup
ENST00000323022.9:c.2841-38_2841-28dup	ENSP00000321618.5:n.2841-38_2841-28dup
ENST00000376251.5:c.2679-38_2679-28dup	ENSP00000365427.1:n.2679-38_2679-28dup
ENST00000376265.2:c.2874-38_2874-28dup	ENSP00000365441.2:n.2874-38_2874-28dup
NM_001256789.2:c.2841-38_2841-28dup	NP_001243718.1:n.2841-38_2841-28dup
NM_001256790.2:c.2679-38_2679-28dup	NP_001243719.1:n.2679-38_2679-28dup
NM_005183.3:c.2874-38_2874-28dup	NP_005174.2:n.2874-38_2874-28dup
XM_011543983.1:c.2679-38_2679-28dup	XP_011542285.1:n.2679-38_2679-28dup
XM_011543983.2:c.2679-38_2679-28dup	XP_011542285.1:n.2679-38_2679-28dup
XM_017029836.1:c.108-38_108-28dup	XP_016885325.1:n.108-38_108-28dup
NM_001256789.3:c.2841-38_2841-28dup MANE Select	NP_001243718.1:n.2841-38_2841-28dup
NM_001256790.3:c.2679-38_2679-28dup	NP_001243719.1:n.2679-38_2679-28dup
NM_005183.4:c.2874-38_2874-28dup	NP_005174.2:n.2874-38_2874-28dup