Canonical Allele Identifier: CA2539224668

Gene: CACNA1D

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801316_53801317insTC , CM000665.2:g.53801316_53801317insTC	GRCh38
NC_000003.11:g.53835343_53835344insTC , CM000665.1:g.53835343_53835344insTC	GRCh37
NC_000003.10:g.53810383_53810384insTC	NCBI36
NG_032999.1:g.311268_311269insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5359_5360insTC	ENSP00000418014.2:p.Ala1787ValfsTer?
ENST00000636633.2:n.2298_2299insTC
ENST00000636999.2:n.734_735insTC
ENST00000288139.11:c.5359_5360insTC MANE Plus Clinical	ENSP00000288139.3:p.Ala1787ValfsTer?
ENST00000350061.11:c.5299_5300insTC MANE Select	ENSP00000288133.5:p.Ala1767ValfsTer?
ENST00000422281.7:c.5254_5255insTC	ENSP00000409174.2:p.Ala1752ValfsTer?
ENST00000636448.1:c.1420_1421insTC
ENST00000636570.1:c.5254_5255insTC	ENSP00000490183.1:p.Ala1752ValfsTer?
ENST00000636629.1:n.655_656insTC
ENST00000636633.1:n.2298_2299insTC
ENST00000636999.1:n.726_727insTC
ENST00000637424.1:c.5326_5327insTC	ENSP00000489769.1:p.Ala1776ValfsTer?
ENST00000637844.1:n.53_54insTC
ENST00000288139.8:c.5359_5360insTC	ENSP00000288139.3:p.Ala1787ValfsTer?
ENST00000350061.9:c.5299_5300insTC	ENSP00000288133.5:p.Ala1767ValfsTer?
ENST00000422281.6:c.5254_5255insTC	ENSP00000409174.2:p.Ala1752ValfsTer?
ENST00000481478.1:c.4378_4379insTC	ENSP00000418014.1:p.Ala1460ValfsTer?
NM_000720.3:c.5359_5360insTC	NP_000711.1:p.Ala1787ValfsTer?
NM_001128839.2:c.5254_5255insTC	NP_001122311.1:p.Ala1752ValfsTer?
NM_001128840.2:c.5299_5300insTC	NP_001122312.1:p.Ala1767ValfsTer?
XM_005265448.2:c.5254_5255insTC	XP_005265505.1:p.Ala1752ValfsTer?
XM_011534094.1:c.5554_5555insTC	XP_011532396.1:p.Ala1852ValfsTer?
XM_011534095.1:c.5443_5444insTC	XP_011532397.1:p.Ala1815ValfsTer?
XM_011534096.1:c.5365_5366insTC	XP_011532398.1:p.Ala1789ValfsTer?
XM_011534097.1:c.5017_5018insTC	XP_011532399.1:p.Ala1673ValfsTer?
XM_011534098.1:c.5017_5018insTC	XP_011532400.1:p.Ala1673ValfsTer?
XM_011534099.1:c.4642_4643insTC	XP_011532401.1:p.Ala1548ValfsTer?
XM_011534100.1:c.5449_5450insTC	XP_011532402.1:p.Ala1817ValfsTer?
XM_005265448.3:c.5254_5255insTC	XP_005265505.1:p.Ala1752ValfsTer?
XM_011534094.2:c.5554_5555insTC	XP_011532396.1:p.Ala1852ValfsTer?
XM_011534096.2:c.5365_5366insTC	XP_011532398.1:p.Ala1789ValfsTer?
XM_011534097.2:c.5017_5018insTC	XP_011532399.1:p.Ala1673ValfsTer?
XM_011534099.2:c.4642_4643insTC	XP_011532401.1:p.Ala1548ValfsTer?
XM_011534100.2:c.5449_5450insTC	XP_011532402.1:p.Ala1817ValfsTer?
XM_017007137.1:c.5554_5555insTC	XP_016862626.1:p.Ala1852ValfsTer?
XM_017007138.1:c.5551_5552insTC	XP_016862627.1:p.Ala1851ValfsTer?
XM_017007139.1:c.5554_5555insTC	XP_016862628.1:p.Ala1852ValfsTer?
XM_017007140.1:c.5494_5495insTC	XP_016862629.1:p.Ala1832ValfsTer?
XM_017007141.1:c.5494_5495insTC	XP_016862630.1:p.Ala1832ValfsTer?
XM_017007142.1:c.5470_5471insTC	XP_016862631.1:p.Ala1824ValfsTer?
XM_017007143.1:c.5470_5471insTC	XP_016862632.1:p.Ala1824ValfsTer?
XM_017007144.1:c.5470_5471insTC	XP_016862633.1:p.Ala1824ValfsTer?
XM_017007145.1:c.5425_5426insTC	XP_016862634.1:p.Ala1809ValfsTer?
NM_001128840.3:c.5299_5300insTC MANE Select	NP_001122312.1:p.Ala1767ValfsTer?
NM_000720.4:c.5359_5360insTC MANE Plus Clinical	NP_000711.1:p.Ala1787ValfsTer?
NM_001128839.3:c.5254_5255insTC	NP_001122311.1:p.Ala1752ValfsTer?