Canonical Allele Identifier: CA2577794094

Gene: CACNA1D

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801181del , CM000665.2:g.53801181del	GRCh38
NC_000003.11:g.53835208del , CM000665.1:g.53835208del	GRCh37
NC_000003.10:g.53810248del	NCBI36
NG_032999.1:g.311133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5224del	ENSP00000418014.2:p.Ser1742ValfsTer25
ENST00000636633.2:n.2194-31del
ENST00000636999.2:n.599del
ENST00000288139.11:c.5224del MANE Plus Clinical	ENSP00000288139.3:p.Ser1742ValfsTer25
ENST00000350061.11:c.5164del MANE Select	ENSP00000288133.5:p.Ser1722ValfsTer25
ENST00000422281.7:c.5119del	ENSP00000409174.2:p.Ser1707ValfsTer25
ENST00000636448.1:c.1316-31del
ENST00000636570.1:c.5119del	ENSP00000490183.1:p.Ser1707ValfsTer25
ENST00000636629.1:n.520del
ENST00000636633.1:n.2194-31del
ENST00000636999.1:n.591del
ENST00000637424.1:c.5191del	ENSP00000489769.1:p.Ser1731ValfsTer25
ENST00000288139.8:c.5224del	ENSP00000288139.3:p.Ser1742ValfsTer25
ENST00000350061.9:c.5164del	ENSP00000288133.5:p.Ser1722ValfsTer25
ENST00000422281.6:c.5119del	ENSP00000409174.2:p.Ser1707ValfsTer25
ENST00000481478.1:c.4243del	ENSP00000418014.1:p.Ser1415ValfsTer25
NM_000720.3:c.5224del	NP_000711.1:p.Ser1742ValfsTer25
NM_001128839.2:c.5119del	NP_001122311.1:p.Ser1707ValfsTer25
NM_001128840.2:c.5164del	NP_001122312.1:p.Ser1722ValfsTer25
XM_005265448.2:c.5119del	XP_005265505.1:p.Ser1707ValfsTer25
XM_011534094.1:c.5419del	XP_011532396.1:p.Ser1807ValfsTer25
XM_011534095.1:c.5308del	XP_011532397.1:p.Ser1770ValfsTer25
XM_011534096.1:c.5230del	XP_011532398.1:p.Ser1744ValfsTer25
XM_011534097.1:c.4882del	XP_011532399.1:p.Ser1628ValfsTer25
XM_011534098.1:c.4882del	XP_011532400.1:p.Ser1628ValfsTer25
XM_011534099.1:c.4507del	XP_011532401.1:p.Ser1503ValfsTer25
XM_011534100.1:c.5314del	XP_011532402.1:p.Ser1772ValfsTer25
XM_005265448.3:c.5119del	XP_005265505.1:p.Ser1707ValfsTer25
XM_011534094.2:c.5419del	XP_011532396.1:p.Ser1807ValfsTer25
XM_011534096.2:c.5230del	XP_011532398.1:p.Ser1744ValfsTer25
XM_011534097.2:c.4882del	XP_011532399.1:p.Ser1628ValfsTer25
XM_011534099.2:c.4507del	XP_011532401.1:p.Ser1503ValfsTer25
XM_011534100.2:c.5314del	XP_011532402.1:p.Ser1772ValfsTer25
XM_017007137.1:c.5419del	XP_016862626.1:p.Ser1807ValfsTer25
XM_017007138.1:c.5416del	XP_016862627.1:p.Ser1806ValfsTer25
XM_017007139.1:c.5419del	XP_016862628.1:p.Ser1807ValfsTer25
XM_017007140.1:c.5359del	XP_016862629.1:p.Ser1787ValfsTer25
XM_017007141.1:c.5359del	XP_016862630.1:p.Ser1787ValfsTer25
XM_017007142.1:c.5335del	XP_016862631.1:p.Ser1779ValfsTer25
XM_017007143.1:c.5335del	XP_016862632.1:p.Ser1779ValfsTer25
XM_017007144.1:c.5335del	XP_016862633.1:p.Ser1779ValfsTer25
XM_017007145.1:c.5290del	XP_016862634.1:p.Ser1764ValfsTer25
NM_001128840.3:c.5164del MANE Select	NP_001122312.1:p.Ser1722ValfsTer25
NM_000720.4:c.5224del MANE Plus Clinical	NP_000711.1:p.Ser1742ValfsTer25
NM_001128839.3:c.5119del	NP_001122311.1:p.Ser1707ValfsTer25