Canonical Allele Identifier: CA4317348
Gene: CACNA2D1 HGNC NCBI

Linked Data

ClinVar Variation Id: 506746
dbSNP Id: rs778907208

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.81950530_81950534del , CM000669.2:g.81950530_81950534del GRCh38
NC_000007.13:g.81579846_81579850del , CM000669.1:g.81579846_81579850del GRCh37
NC_000007.12:g.81417782_81417786del NCBI36
NG_009358.2:g.498189_498193del , LRG_437:g.498189_498193del

Transcript Alleles

HGVS Amino-acid Change
ENST00000443883.2:c.3196-19_3196-15del ENSP00000409374.2:n.3196-19_3196-15del
ENST00000705961.1:c.2927-19_2927-15del
ENST00000705962.1:c.3040-19_3040-15del ENSP00000516190.1:n.3040-19_3040-15del
ENST00000356860.8:c.3160-19_3160-15del MANE Select ENSP00000349320.3:n.3160-19_3160-15del
ENST00000356253.9:c.3196-19_3196-15del ENSP00000348589.5:n.3196-19_3196-15del
ENST00000356860.7:c.3160-19_3160-15del ENSP00000349320.3:n.3160-19_3160-15del
NM_000722.3:c.3160-19_3160-15del NP_000713.2:n.3160-19_3160-15del
XM_005250570.1:c.3196-19_3196-15del XP_005250627.1:n.3196-19_3196-15del
XM_005250572.1:c.3145-19_3145-15del XP_005250629.1:n.3145-19_3145-15del
XM_005250573.1:c.3139-19_3139-15del XP_005250630.1:n.3139-19_3139-15del
XM_005250574.1:c.3124-19_3124-15del XP_005250631.1:n.3124-19_3124-15del
XM_006716118.1:c.3217-19_3217-15del XP_006716181.1:n.3217-19_3217-15del
XM_006716119.2:c.3142-19_3142-15del XP_006716182.1:n.3142-19_3142-15del
XM_006716120.2:c.3100-19_3100-15del XP_006716183.1:n.3100-19_3100-15del
XM_006716121.2:c.1627-19_1627-15del XP_006716184.1:n.1627-19_1627-15del
XM_011516571.1:c.3202-19_3202-15del XP_011514873.1:n.3202-19_3202-15del
XM_011516572.1:c.3181-19_3181-15del XP_011514874.1:n.3181-19_3181-15del
XM_011516573.1:c.2986-19_2986-15del XP_011514875.1:n.2986-19_2986-15del
NM_001366867.1:c.3196-19_3196-15del NP_001353796.1:n.3196-19_3196-15del
XM_005250572.3:c.3145-19_3145-15del XP_005250629.1:n.3145-19_3145-15del
XM_005250573.3:c.3139-19_3139-15del XP_005250630.1:n.3139-19_3139-15del
XM_005250574.3:c.3124-19_3124-15del XP_005250631.1:n.3124-19_3124-15del
XM_006716118.3:c.3217-19_3217-15del XP_006716181.1:n.3217-19_3217-15del
XM_006716119.3:c.3142-19_3142-15del XP_006716182.1:n.3142-19_3142-15del
XM_006716120.3:c.3100-19_3100-15del XP_006716183.1:n.3100-19_3100-15del
XM_006716121.3:c.1627-19_1627-15del XP_006716184.1:n.1627-19_1627-15del
XM_011516571.3:c.3202-19_3202-15del XP_011514873.1:n.3202-19_3202-15del
XM_011516572.3:c.3181-19_3181-15del XP_011514874.1:n.3181-19_3181-15del
XM_017012588.1:c.3043-19_3043-15del XP_016868077.1:n.3043-19_3043-15del
XR_001744874.2:n.2953-19_2953-15del
NM_000722.4:c.3160-19_3160-15del MANE Select NP_000713.2:n.3160-19_3160-15del