Canonical Allele Identifier: CA1048061595

Gene: CACNA1D

Linked Data

• dbSNP Id: rs2094346474
• gnomAD v3: 3-53673606-TAGG-T
• gnomAD v4: 3-53673606-TAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53673609_53673611del , CM000665.2:g.53673609_53673611del	GRCh38
NC_000003.11:g.53707636_53707638del , CM000665.1:g.53707636_53707638del	GRCh37
NC_000003.10:g.53682676_53682678del	NCBI36
NG_032999.1:g.183561_183563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.1220+483_1220+485del	ENSP00000418014.2:n.1220+483_1220+485del
ENST00000636627.2:c.1117-104_1117-102del	ENSP00000490889.2:n.1117-104_1117-102del
ENST00000288139.11:c.1117-104_1117-102del MANE Plus Clinical	ENSP00000288139.3:n.1117-104_1117-102del
ENST00000350061.11:c.1220+483_1220+485del MANE Select	ENSP00000288133.5:n.1220+483_1220+485del
ENST00000422281.7:c.1220+483_1220+485del	ENSP00000409174.2:n.1220+483_1220+485del
ENST00000498251.2:n.66+483_66+485del
ENST00000636570.1:c.1117-104_1117-102del	ENSP00000490183.1:n.1117-104_1117-102del
ENST00000636627.1:c.357-104_357-102del
ENST00000636938.1:c.1117-104_1117-102del	ENSP00000490039.1:n.1117-104_1117-102del
ENST00000637424.1:c.1189-104_1189-102del	ENSP00000489769.1:n.1189-104_1189-102del
ENST00000640483.1:c.1090-104_1090-102del	ENSP00000491921.1:n.1090-104_1090-102del
ENST00000288139.8:c.1117-104_1117-102del	ENSP00000288139.3:n.1117-104_1117-102del
ENST00000350061.9:c.1220+483_1220+485del	ENSP00000288133.5:n.1220+483_1220+485del
ENST00000422281.6:c.1220+483_1220+485del	ENSP00000409174.2:n.1220+483_1220+485del
ENST00000464429.1:n.159-104_159-102del
ENST00000481085.5:c.174-104_174-102del
ENST00000481478.1:c.239+483_239+485del	ENSP00000418014.1:n.239+483_239+485del
ENST00000498251.1:n.66+483_66+485del
NM_000720.3:c.1117-104_1117-102del	NP_000711.1:n.1117-104_1117-102del
NM_001128839.2:c.1220+483_1220+485del	NP_001122311.1:n.1220+483_1220+485del
NM_001128840.2:c.1220+483_1220+485del	NP_001122312.1:n.1220+483_1220+485del
XM_005265448.2:c.1117-104_1117-102del	XP_005265505.1:n.1117-104_1117-102del
XM_011534094.1:c.1331+483_1331+485del	XP_011532396.1:n.1331+483_1331+485del
XM_011534095.1:c.1117-104_1117-102del	XP_011532397.1:n.1117-104_1117-102del
XM_011534096.1:c.1228-104_1228-102del	XP_011532398.1:n.1228-104_1228-102del
XM_011534097.1:c.691-104_691-102del	XP_011532399.1:n.691-104_691-102del
XM_011534098.1:c.691-104_691-102del	XP_011532400.1:n.691-104_691-102del
XM_011534099.1:c.316-104_316-102del	XP_011532401.1:n.316-104_316-102del
XM_011534100.1:c.1228-104_1228-102del	XP_011532402.1:n.1228-104_1228-102del
XM_005265448.3:c.1117-104_1117-102del	XP_005265505.1:n.1117-104_1117-102del
XM_011534094.2:c.1331+483_1331+485del	XP_011532396.1:n.1331+483_1331+485del
XM_011534096.2:c.1228-104_1228-102del	XP_011532398.1:n.1228-104_1228-102del
XM_011534097.2:c.691-104_691-102del	XP_011532399.1:n.691-104_691-102del
XM_011534099.2:c.316-104_316-102del	XP_011532401.1:n.316-104_316-102del
XM_011534100.2:c.1228-104_1228-102del	XP_011532402.1:n.1228-104_1228-102del
XM_017007137.1:c.1228-104_1228-102del	XP_016862626.1:n.1228-104_1228-102del
XM_017007138.1:c.1228-104_1228-102del	XP_016862627.1:n.1228-104_1228-102del
XM_017007139.1:c.1228-104_1228-102del	XP_016862628.1:n.1228-104_1228-102del
XM_017007140.1:c.1228-104_1228-102del	XP_016862629.1:n.1228-104_1228-102del
XM_017007141.1:c.1331+483_1331+485del	XP_016862630.1:n.1331+483_1331+485del
XM_017007142.1:c.1228-104_1228-102del	XP_016862631.1:n.1228-104_1228-102del
XM_017007143.1:c.1228-104_1228-102del	XP_016862632.1:n.1228-104_1228-102del
XM_017007144.1:c.1331+483_1331+485del	XP_016862633.1:n.1331+483_1331+485del
XM_017007145.1:c.1228-104_1228-102del	XP_016862634.1:n.1228-104_1228-102del
NM_001128840.3:c.1220+483_1220+485del MANE Select	NP_001122312.1:n.1220+483_1220+485del
NM_000720.4:c.1117-104_1117-102del MANE Plus Clinical	NP_000711.1:n.1117-104_1117-102del
NM_001128839.3:c.1220+483_1220+485del	NP_001122311.1:n.1220+483_1220+485del