Canonical Allele Identifier: CA1365484238

Gene: CACNA1D

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801427_53801428delinsTA , CM000665.2:g.53801427_53801428delinsTA	GRCh38
NC_000003.11:g.53835454_53835455delinsTA , CM000665.1:g.53835454_53835455delinsTA	GRCh37
NC_000003.10:g.53810494_53810495delinsTA	NCBI36
NG_032999.1:g.311379_311380delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5468+2_5468+3delinsTA	ENSP00000418014.2:n.5468+2_5468+3delinsTA
ENST00000636633.2:n.2407+2_2407+3delinsTA
ENST00000636999.2:n.843+2_843+3delinsTA
ENST00000288139.11:c.5468+2_5468+3delinsTA MANE Plus Clinical	ENSP00000288139.3:n.5468+2_5468+3delinsTA
ENST00000350061.11:c.5408+2_5408+3delinsTA MANE Select	ENSP00000288133.5:n.5408+2_5408+3delinsTA
ENST00000422281.7:c.5363+2_5363+3delinsTA	ENSP00000409174.2:n.5363+2_5363+3delinsTA
ENST00000636448.1:c.1529+2_1529+3delinsTA
ENST00000636570.1:c.5363+2_5363+3delinsTA	ENSP00000490183.1:n.5363+2_5363+3delinsTA
ENST00000636629.1:n.764+2_764+3delinsTA
ENST00000636633.1:n.2407+2_2407+3delinsTA
ENST00000636999.1:n.835+2_835+3delinsTA
ENST00000637424.1:c.5435+2_5435+3delinsTA	ENSP00000489769.1:n.5435+2_5435+3delinsTA
ENST00000637844.1:n.162+2_162+3delinsTA
ENST00000288139.8:c.5468+2_5468+3delinsTA	ENSP00000288139.3:n.5468+2_5468+3delinsTA
ENST00000350061.9:c.5408+2_5408+3delinsTA	ENSP00000288133.5:n.5408+2_5408+3delinsTA
ENST00000422281.6:c.5363+2_5363+3delinsTA	ENSP00000409174.2:n.5363+2_5363+3delinsTA
ENST00000481478.1:c.4487+2_4487+3delinsTA	ENSP00000418014.1:n.4487+2_4487+3delinsTA
NM_000720.3:c.5468+2_5468+3delinsTA	NP_000711.1:n.5468+2_5468+3delinsTA
NM_001128839.2:c.5363+2_5363+3delinsTA	NP_001122311.1:n.5363+2_5363+3delinsTA
NM_001128840.2:c.5408+2_5408+3delinsTA	NP_001122312.1:n.5408+2_5408+3delinsTA
XM_005265448.2:c.5363+2_5363+3delinsTA	XP_005265505.1:n.5363+2_5363+3delinsTA
XM_011534094.1:c.5663+2_5663+3delinsTA	XP_011532396.1:n.5663+2_5663+3delinsTA
XM_011534095.1:c.5552+2_5552+3delinsTA	XP_011532397.1:n.5552+2_5552+3delinsTA
XM_011534096.1:c.5474+2_5474+3delinsTA	XP_011532398.1:n.5474+2_5474+3delinsTA
XM_011534097.1:c.5126+2_5126+3delinsTA	XP_011532399.1:n.5126+2_5126+3delinsTA
XM_011534098.1:c.5126+2_5126+3delinsTA	XP_011532400.1:n.5126+2_5126+3delinsTA
XM_011534099.1:c.4751+2_4751+3delinsTA	XP_011532401.1:n.4751+2_4751+3delinsTA
XM_011534100.1:c.5558+2_5558+3delinsTA	XP_011532402.1:n.5558+2_5558+3delinsTA
XM_005265448.3:c.5363+2_5363+3delinsTA	XP_005265505.1:n.5363+2_5363+3delinsTA
XM_011534094.2:c.5663+2_5663+3delinsTA	XP_011532396.1:n.5663+2_5663+3delinsTA
XM_011534096.2:c.5474+2_5474+3delinsTA	XP_011532398.1:n.5474+2_5474+3delinsTA
XM_011534097.2:c.5126+2_5126+3delinsTA	XP_011532399.1:n.5126+2_5126+3delinsTA
XM_011534099.2:c.4751+2_4751+3delinsTA	XP_011532401.1:n.4751+2_4751+3delinsTA
XM_011534100.2:c.5558+2_5558+3delinsTA	XP_011532402.1:n.5558+2_5558+3delinsTA
XM_017007137.1:c.5663+2_5663+3delinsTA	XP_016862626.1:n.5663+2_5663+3delinsTA
XM_017007138.1:c.5660+2_5660+3delinsTA	XP_016862627.1:n.5660+2_5660+3delinsTA
XM_017007139.1:c.5663+2_5663+3delinsTA	XP_016862628.1:n.5663+2_5663+3delinsTA
XM_017007140.1:c.5603+2_5603+3delinsTA	XP_016862629.1:n.5603+2_5603+3delinsTA
XM_017007141.1:c.5603+2_5603+3delinsTA	XP_016862630.1:n.5603+2_5603+3delinsTA
XM_017007142.1:c.5579+2_5579+3delinsTA	XP_016862631.1:n.5579+2_5579+3delinsTA
XM_017007143.1:c.5579+2_5579+3delinsTA	XP_016862632.1:n.5579+2_5579+3delinsTA
XM_017007144.1:c.5579+2_5579+3delinsTA	XP_016862633.1:n.5579+2_5579+3delinsTA
XM_017007145.1:c.5534+2_5534+3delinsTA	XP_016862634.1:n.5534+2_5534+3delinsTA
NM_001128840.3:c.5408+2_5408+3delinsTA MANE Select	NP_001122312.1:n.5408+2_5408+3delinsTA
NM_000720.4:c.5468+2_5468+3delinsTA MANE Plus Clinical	NP_000711.1:n.5468+2_5468+3delinsTA
NM_001128839.3:c.5363+2_5363+3delinsTA	NP_001122311.1:n.5363+2_5363+3delinsTA