Canonical Allele Identifier: CA2577794095

Gene: CACNA1D

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801424dup , CM000665.2:g.53801424dup	GRCh38
NC_000003.11:g.53835451dup , CM000665.1:g.53835451dup	GRCh37
NC_000003.10:g.53810491dup	NCBI36
NG_032999.1:g.311376dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5467dup	ENSP00000418014.2:p.Arg1823LysfsTer6
ENST00000636633.2:n.2406dup
ENST00000636999.2:n.842dup
ENST00000288139.11:c.5467dup MANE Plus Clinical	ENSP00000288139.3:p.Arg1823LysfsTer6
ENST00000350061.11:c.5407dup MANE Select	ENSP00000288133.5:p.Arg1803LysfsTer6
ENST00000422281.7:c.5362dup	ENSP00000409174.2:p.Arg1788LysfsTer7
ENST00000636448.1:c.1528dup
ENST00000636570.1:c.5362dup	ENSP00000490183.1:p.Arg1788LysfsTer6
ENST00000636629.1:n.763dup
ENST00000636633.1:n.2406dup
ENST00000636999.1:n.834dup
ENST00000637424.1:c.5434dup	ENSP00000489769.1:p.Arg1812LysfsTer6
ENST00000637844.1:n.161dup
ENST00000288139.8:c.5467dup	ENSP00000288139.3:p.Arg1823LysfsTer6
ENST00000350061.9:c.5407dup	ENSP00000288133.5:p.Arg1803LysfsTer6
ENST00000422281.6:c.5362dup	ENSP00000409174.2:p.Arg1788LysfsTer7
ENST00000481478.1:c.4486dup	ENSP00000418014.1:p.Arg1496LysfsTer6
NM_000720.3:c.5467dup	NP_000711.1:p.Arg1823LysfsTer6
NM_001128839.2:c.5362dup	NP_001122311.1:p.Arg1788LysfsTer7
NM_001128840.2:c.5407dup	NP_001122312.1:p.Arg1803LysfsTer6
XM_005265448.2:c.5362dup	XP_005265505.1:p.Arg1788LysfsTer6
XM_011534094.1:c.5662dup	XP_011532396.1:p.Arg1888LysfsTer6
XM_011534095.1:c.5551dup	XP_011532397.1:p.Arg1851LysfsTer6
XM_011534096.1:c.5473dup	XP_011532398.1:p.Arg1825LysfsTer6
XM_011534097.1:c.5125dup	XP_011532399.1:p.Arg1709LysfsTer6
XM_011534098.1:c.5125dup	XP_011532400.1:p.Arg1709LysfsTer6
XM_011534099.1:c.4750dup	XP_011532401.1:p.Arg1584LysfsTer6
XM_011534100.1:c.5557dup	XP_011532402.1:p.Arg1853LysfsTer6
XM_005265448.3:c.5362dup	XP_005265505.1:p.Arg1788LysfsTer6
XM_011534094.2:c.5662dup	XP_011532396.1:p.Arg1888LysfsTer6
XM_011534096.2:c.5473dup	XP_011532398.1:p.Arg1825LysfsTer6
XM_011534097.2:c.5125dup	XP_011532399.1:p.Arg1709LysfsTer6
XM_011534099.2:c.4750dup	XP_011532401.1:p.Arg1584LysfsTer6
XM_011534100.2:c.5557dup	XP_011532402.1:p.Arg1853LysfsTer6
XM_017007137.1:c.5662dup	XP_016862626.1:p.Arg1888LysfsTer6
XM_017007138.1:c.5659dup	XP_016862627.1:p.Arg1887LysfsTer6
XM_017007139.1:c.5662dup	XP_016862628.1:p.Arg1888LysfsTer7
XM_017007140.1:c.5602dup	XP_016862629.1:p.Arg1868LysfsTer6
XM_017007141.1:c.5602dup	XP_016862630.1:p.Arg1868LysfsTer6
XM_017007142.1:c.5578dup	XP_016862631.1:p.Arg1860LysfsTer6
XM_017007143.1:c.5578dup	XP_016862632.1:p.Arg1860LysfsTer6
XM_017007144.1:c.5578dup	XP_016862633.1:p.Arg1860LysfsTer6
XM_017007145.1:c.5533dup	XP_016862634.1:p.Arg1845LysfsTer6
NM_001128840.3:c.5407dup MANE Select	NP_001122312.1:p.Arg1803LysfsTer6
NM_000720.4:c.5467dup MANE Plus Clinical	NP_000711.1:p.Arg1823LysfsTer6
NM_001128839.3:c.5362dup	NP_001122311.1:p.Arg1788LysfsTer7