Canonical Allele Identifier: CA1048074940

Gene: CACNA1D

Linked Data

• dbSNP Id: rs949318100
• gnomAD v3: 3-53801502-GTCTGTGC-G
• gnomAD v4: 3-53801502-GTCTGTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801514_53801520del , CM000665.2:g.53801514_53801520del	GRCh38
NC_000003.11:g.53835541_53835547del , CM000665.1:g.53835541_53835547del	GRCh37
NC_000003.10:g.53810581_53810587del	NCBI36
NG_032999.1:g.311466_311472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5468+89_5468+95del	ENSP00000418014.2:n.5468+89_5468+95del
ENST00000636633.2:n.2407+89_2407+95del
ENST00000636999.2:n.843+89_843+95del
ENST00000288139.11:c.5468+89_5468+95del MANE Plus Clinical	ENSP00000288139.3:n.5468+89_5468+95del
ENST00000350061.11:c.5408+89_5408+95del MANE Select	ENSP00000288133.5:n.5408+89_5408+95del
ENST00000422281.7:c.5363+89_5363+95del	ENSP00000409174.2:n.5363+89_5363+95del
ENST00000636448.1:c.1529+89_1529+95del
ENST00000636570.1:c.5363+89_5363+95del	ENSP00000490183.1:n.5363+89_5363+95del
ENST00000636629.1:n.764+89_764+95del
ENST00000636633.1:n.2407+89_2407+95del
ENST00000636999.1:n.835+89_835+95del
ENST00000637424.1:c.5435+89_5435+95del	ENSP00000489769.1:n.5435+89_5435+95del
ENST00000637844.1:n.162+89_162+95del
ENST00000288139.8:c.5468+89_5468+95del	ENSP00000288139.3:n.5468+89_5468+95del
ENST00000350061.9:c.5408+89_5408+95del	ENSP00000288133.5:n.5408+89_5408+95del
ENST00000422281.6:c.5363+89_5363+95del	ENSP00000409174.2:n.5363+89_5363+95del
ENST00000481478.1:c.4487+89_4487+95del	ENSP00000418014.1:n.4487+89_4487+95del
NM_000720.3:c.5468+89_5468+95del	NP_000711.1:n.5468+89_5468+95del
NM_001128839.2:c.5363+89_5363+95del	NP_001122311.1:n.5363+89_5363+95del
NM_001128840.2:c.5408+89_5408+95del	NP_001122312.1:n.5408+89_5408+95del
XM_005265448.2:c.5363+89_5363+95del	XP_005265505.1:n.5363+89_5363+95del
XM_011534094.1:c.5663+89_5663+95del	XP_011532396.1:n.5663+89_5663+95del
XM_011534095.1:c.5552+89_5552+95del	XP_011532397.1:n.5552+89_5552+95del
XM_011534096.1:c.5474+89_5474+95del	XP_011532398.1:n.5474+89_5474+95del
XM_011534097.1:c.5126+89_5126+95del	XP_011532399.1:n.5126+89_5126+95del
XM_011534098.1:c.5126+89_5126+95del	XP_011532400.1:n.5126+89_5126+95del
XM_011534099.1:c.4751+89_4751+95del	XP_011532401.1:n.4751+89_4751+95del
XM_011534100.1:c.5558+89_5558+95del	XP_011532402.1:n.5558+89_5558+95del
XM_005265448.3:c.5363+89_5363+95del	XP_005265505.1:n.5363+89_5363+95del
XM_011534094.2:c.5663+89_5663+95del	XP_011532396.1:n.5663+89_5663+95del
XM_011534096.2:c.5474+89_5474+95del	XP_011532398.1:n.5474+89_5474+95del
XM_011534097.2:c.5126+89_5126+95del	XP_011532399.1:n.5126+89_5126+95del
XM_011534099.2:c.4751+89_4751+95del	XP_011532401.1:n.4751+89_4751+95del
XM_011534100.2:c.5558+89_5558+95del	XP_011532402.1:n.5558+89_5558+95del
XM_017007137.1:c.5663+89_5663+95del	XP_016862626.1:n.5663+89_5663+95del
XM_017007138.1:c.5660+89_5660+95del	XP_016862627.1:n.5660+89_5660+95del
XM_017007139.1:c.5663+89_5663+95del	XP_016862628.1:n.5663+89_5663+95del
XM_017007140.1:c.5603+89_5603+95del	XP_016862629.1:n.5603+89_5603+95del
XM_017007141.1:c.5603+89_5603+95del	XP_016862630.1:n.5603+89_5603+95del
XM_017007142.1:c.5579+89_5579+95del	XP_016862631.1:n.5579+89_5579+95del
XM_017007143.1:c.5579+89_5579+95del	XP_016862632.1:n.5579+89_5579+95del
XM_017007144.1:c.5579+89_5579+95del	XP_016862633.1:n.5579+89_5579+95del
XM_017007145.1:c.5534+89_5534+95del	XP_016862634.1:n.5534+89_5534+95del
NM_001128840.3:c.5408+89_5408+95del MANE Select	NP_001122312.1:n.5408+89_5408+95del
NM_000720.4:c.5468+89_5468+95del MANE Plus Clinical	NP_000711.1:n.5468+89_5468+95del
NM_001128839.3:c.5363+89_5363+95del	NP_001122311.1:n.5363+89_5363+95del