Canonical Allele Identifier: CA1365359937

Gene: CACNA1D

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53524819_53524821delinsTAA , CM000665.2:g.53524819_53524821delinsTAA	GRCh38
NC_000003.11:g.53558846_53558848delinsTAA , CM000665.1:g.53558846_53558848delinsTAA	GRCh37
NC_000003.10:g.53533886_53533888delinsTAA	NCBI36
NG_032999.1:g.34771_34773delinsTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000481478.2:c.483+23099_483+23101delinsTAA	ENSP00000418014.2:n.483+23099_483+23101delinsTAA
ENST00000636627.2:c.483+23099_483+23101delinsTAA	ENSP00000490889.2:n.483+23099_483+23101delinsTAA
ENST00000288139.11:c.483+23099_483+23101delinsTAA MANE Plus Clinical	ENSP00000288139.3:n.483+23099_483+23101delinsTAA
ENST00000350061.11:c.483+23099_483+23101delinsTAA MANE Select	ENSP00000288133.5:n.483+23099_483+23101delinsTAA
ENST00000422281.7:c.483+23099_483+23101delinsTAA	ENSP00000409174.2:n.483+23099_483+23101delinsTAA
ENST00000636480.1:n.491+23099_491+23101delinsTAA
ENST00000636570.1:c.483+23099_483+23101delinsTAA	ENSP00000490183.1:n.483+23099_483+23101delinsTAA
ENST00000636938.1:c.483+23099_483+23101delinsTAA	ENSP00000490039.1:n.483+23099_483+23101delinsTAA
ENST00000637424.1:c.555+23099_555+23101delinsTAA	ENSP00000489769.1:n.555+23099_555+23101delinsTAA
ENST00000640483.1:c.456+23099_456+23101delinsTAA	ENSP00000491921.1:n.456+23099_456+23101delinsTAA
ENST00000288139.8:c.483+23099_483+23101delinsTAA	ENSP00000288139.3:n.483+23099_483+23101delinsTAA
ENST00000350061.9:c.483+23099_483+23101delinsTAA	ENSP00000288133.5:n.483+23099_483+23101delinsTAA
ENST00000422281.6:c.483+23099_483+23101delinsTAA	ENSP00000409174.2:n.483+23099_483+23101delinsTAA
NM_000720.3:c.483+23099_483+23101delinsTAA	NP_000711.1:n.483+23099_483+23101delinsTAA
NM_001128839.2:c.483+23099_483+23101delinsTAA	NP_001122311.1:n.483+23099_483+23101delinsTAA
NM_001128840.2:c.483+23099_483+23101delinsTAA	NP_001122312.1:n.483+23099_483+23101delinsTAA
XM_005265448.2:c.483+23099_483+23101delinsTAA	XP_005265505.1:n.483+23099_483+23101delinsTAA
XM_011534094.1:c.594+23099_594+23101delinsTAA	XP_011532396.1:n.594+23099_594+23101delinsTAA
XM_011534095.1:c.483+23099_483+23101delinsTAA	XP_011532397.1:n.483+23099_483+23101delinsTAA
XM_011534096.1:c.594+23099_594+23101delinsTAA	XP_011532398.1:n.594+23099_594+23101delinsTAA
XM_011534097.1:c.57+23315_57+23317delinsTAA	XP_011532399.1:n.57+23315_57+23317delinsTAA
XM_011534098.1:c.57+23315_57+23317delinsTAA	XP_011532400.1:n.57+23315_57+23317delinsTAA
XM_011534100.1:c.594+23099_594+23101delinsTAA	XP_011532402.1:n.594+23099_594+23101delinsTAA
XM_005265448.3:c.483+23099_483+23101delinsTAA	XP_005265505.1:n.483+23099_483+23101delinsTAA
XM_011534094.2:c.594+23099_594+23101delinsTAA	XP_011532396.1:n.594+23099_594+23101delinsTAA
XM_011534096.2:c.594+23099_594+23101delinsTAA	XP_011532398.1:n.594+23099_594+23101delinsTAA
XM_011534097.2:c.57+23315_57+23317delinsTAA	XP_011532399.1:n.57+23315_57+23317delinsTAA
XM_011534100.2:c.594+23099_594+23101delinsTAA	XP_011532402.1:n.594+23099_594+23101delinsTAA
XM_017007137.1:c.594+23099_594+23101delinsTAA	XP_016862626.1:n.594+23099_594+23101delinsTAA
XM_017007138.1:c.594+23099_594+23101delinsTAA	XP_016862627.1:n.594+23099_594+23101delinsTAA
XM_017007139.1:c.594+23099_594+23101delinsTAA	XP_016862628.1:n.594+23099_594+23101delinsTAA
XM_017007140.1:c.594+23099_594+23101delinsTAA	XP_016862629.1:n.594+23099_594+23101delinsTAA
XM_017007141.1:c.594+23099_594+23101delinsTAA	XP_016862630.1:n.594+23099_594+23101delinsTAA
XM_017007142.1:c.594+23099_594+23101delinsTAA	XP_016862631.1:n.594+23099_594+23101delinsTAA
XM_017007143.1:c.594+23099_594+23101delinsTAA	XP_016862632.1:n.594+23099_594+23101delinsTAA
XM_017007144.1:c.594+23099_594+23101delinsTAA	XP_016862633.1:n.594+23099_594+23101delinsTAA
XM_017007145.1:c.594+23099_594+23101delinsTAA	XP_016862634.1:n.594+23099_594+23101delinsTAA
NM_001128840.3:c.483+23099_483+23101delinsTAA MANE Select	NP_001122312.1:n.483+23099_483+23101delinsTAA
NM_000720.4:c.483+23099_483+23101delinsTAA MANE Plus Clinical	NP_000711.1:n.483+23099_483+23101delinsTAA
NM_001128839.3:c.483+23099_483+23101delinsTAA	NP_001122311.1:n.483+23099_483+23101delinsTAA