Canonical Allele Identifier: CA1365484285
Gene: CACNA1D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53801502_53801509delinsGTCTGTGC , CM000665.2:g.53801502_53801509delinsGTCTGTGC GRCh38
NC_000003.11:g.53835529_53835536delinsGTCTGTGC , CM000665.1:g.53835529_53835536delinsGTCTGTGC GRCh37
NC_000003.10:g.53810569_53810576delinsGTCTGTGC NCBI36
NG_032999.1:g.311454_311461delinsGTCTGTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000481478.2:c.5468+77_5468+84delinsGTCTGTGC ENSP00000418014.2:n.5468+77_5468+84delinsGTCTGTGC
ENST00000636633.2:n.2407+77_2407+84delinsGTCTGTGC
ENST00000636999.2:n.843+77_843+84delinsGTCTGTGC
ENST00000288139.11:c.5468+77_5468+84delinsGTCTGTGC MANE Plus Clinical ENSP00000288139.3:n.5468+77_5468+84delinsGTCTGTGC
ENST00000350061.11:c.5408+77_5408+84delinsGTCTGTGC MANE Select ENSP00000288133.5:n.5408+77_5408+84delinsGTCTGTGC
ENST00000422281.7:c.5363+77_5363+84delinsGTCTGTGC ENSP00000409174.2:n.5363+77_5363+84delinsGTCTGTGC
ENST00000636448.1:c.1529+77_1529+84delinsGTCTGTGC
ENST00000636570.1:c.5363+77_5363+84delinsGTCTGTGC ENSP00000490183.1:n.5363+77_5363+84delinsGTCTGTGC
ENST00000636629.1:n.764+77_764+84delinsGTCTGTGC
ENST00000636633.1:n.2407+77_2407+84delinsGTCTGTGC
ENST00000636999.1:n.835+77_835+84delinsGTCTGTGC
ENST00000637424.1:c.5435+77_5435+84delinsGTCTGTGC ENSP00000489769.1:n.5435+77_5435+84delinsGTCTGTGC
ENST00000637844.1:n.162+77_162+84delinsGTCTGTGC
ENST00000288139.8:c.5468+77_5468+84delinsGTCTGTGC ENSP00000288139.3:n.5468+77_5468+84delinsGTCTGTGC
ENST00000350061.9:c.5408+77_5408+84delinsGTCTGTGC ENSP00000288133.5:n.5408+77_5408+84delinsGTCTGTGC
ENST00000422281.6:c.5363+77_5363+84delinsGTCTGTGC ENSP00000409174.2:n.5363+77_5363+84delinsGTCTGTGC
ENST00000481478.1:c.4487+77_4487+84delinsGTCTGTGC ENSP00000418014.1:n.4487+77_4487+84delinsGTCTGTGC
NM_000720.3:c.5468+77_5468+84delinsGTCTGTGC NP_000711.1:n.5468+77_5468+84delinsGTCTGTGC
NM_001128839.2:c.5363+77_5363+84delinsGTCTGTGC NP_001122311.1:n.5363+77_5363+84delinsGTCTGTGC
NM_001128840.2:c.5408+77_5408+84delinsGTCTGTGC NP_001122312.1:n.5408+77_5408+84delinsGTCTGTGC
XM_005265448.2:c.5363+77_5363+84delinsGTCTGTGC XP_005265505.1:n.5363+77_5363+84delinsGTCTGTGC
XM_011534094.1:c.5663+77_5663+84delinsGTCTGTGC XP_011532396.1:n.5663+77_5663+84delinsGTCTGTGC
XM_011534095.1:c.5552+77_5552+84delinsGTCTGTGC XP_011532397.1:n.5552+77_5552+84delinsGTCTGTGC
XM_011534096.1:c.5474+77_5474+84delinsGTCTGTGC XP_011532398.1:n.5474+77_5474+84delinsGTCTGTGC
XM_011534097.1:c.5126+77_5126+84delinsGTCTGTGC XP_011532399.1:n.5126+77_5126+84delinsGTCTGTGC
XM_011534098.1:c.5126+77_5126+84delinsGTCTGTGC XP_011532400.1:n.5126+77_5126+84delinsGTCTGTGC
XM_011534099.1:c.4751+77_4751+84delinsGTCTGTGC XP_011532401.1:n.4751+77_4751+84delinsGTCTGTGC
XM_011534100.1:c.5558+77_5558+84delinsGTCTGTGC XP_011532402.1:n.5558+77_5558+84delinsGTCTGTGC
XM_005265448.3:c.5363+77_5363+84delinsGTCTGTGC XP_005265505.1:n.5363+77_5363+84delinsGTCTGTGC
XM_011534094.2:c.5663+77_5663+84delinsGTCTGTGC XP_011532396.1:n.5663+77_5663+84delinsGTCTGTGC
XM_011534096.2:c.5474+77_5474+84delinsGTCTGTGC XP_011532398.1:n.5474+77_5474+84delinsGTCTGTGC
XM_011534097.2:c.5126+77_5126+84delinsGTCTGTGC XP_011532399.1:n.5126+77_5126+84delinsGTCTGTGC
XM_011534099.2:c.4751+77_4751+84delinsGTCTGTGC XP_011532401.1:n.4751+77_4751+84delinsGTCTGTGC
XM_011534100.2:c.5558+77_5558+84delinsGTCTGTGC XP_011532402.1:n.5558+77_5558+84delinsGTCTGTGC
XM_017007137.1:c.5663+77_5663+84delinsGTCTGTGC XP_016862626.1:n.5663+77_5663+84delinsGTCTGTGC
XM_017007138.1:c.5660+77_5660+84delinsGTCTGTGC XP_016862627.1:n.5660+77_5660+84delinsGTCTGTGC
XM_017007139.1:c.5663+77_5663+84delinsGTCTGTGC XP_016862628.1:n.5663+77_5663+84delinsGTCTGTGC
XM_017007140.1:c.5603+77_5603+84delinsGTCTGTGC XP_016862629.1:n.5603+77_5603+84delinsGTCTGTGC
XM_017007141.1:c.5603+77_5603+84delinsGTCTGTGC XP_016862630.1:n.5603+77_5603+84delinsGTCTGTGC
XM_017007142.1:c.5579+77_5579+84delinsGTCTGTGC XP_016862631.1:n.5579+77_5579+84delinsGTCTGTGC
XM_017007143.1:c.5579+77_5579+84delinsGTCTGTGC XP_016862632.1:n.5579+77_5579+84delinsGTCTGTGC
XM_017007144.1:c.5579+77_5579+84delinsGTCTGTGC XP_016862633.1:n.5579+77_5579+84delinsGTCTGTGC
XM_017007145.1:c.5534+77_5534+84delinsGTCTGTGC XP_016862634.1:n.5534+77_5534+84delinsGTCTGTGC
NM_001128840.3:c.5408+77_5408+84delinsGTCTGTGC MANE Select NP_001122312.1:n.5408+77_5408+84delinsGTCTGTGC
NM_000720.4:c.5468+77_5468+84delinsGTCTGTGC MANE Plus Clinical NP_000711.1:n.5468+77_5468+84delinsGTCTGTGC
NM_001128839.3:c.5363+77_5363+84delinsGTCTGTGC NP_001122311.1:n.5363+77_5363+84delinsGTCTGTGC