Canonical Allele Identifier: CA2683539731

Gene: CACNA2D1

Linked Data

• gnomAD v4: 7-81974391-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974392dup , CM000669.2:g.81974392dup	GRCh38
NC_000007.13:g.81603708dup , CM000669.1:g.81603708dup	GRCh37
NC_000007.12:g.81441644dup	NCBI36
NG_009358.2:g.474324dup , LRG_437:g.474324dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443883.2:c.2089+63dup	ENSP00000409374.2:n.2089+63dup
ENST00000705961.1:c.1820+63dup
ENST00000705962.1:c.1933+63dup	ENSP00000516190.1:n.1933+63dup
ENST00000356860.8:c.2053+63dup MANE Select	ENSP00000349320.3:n.2053+63dup
ENST00000356253.9:c.2089+63dup	ENSP00000348589.5:n.2089+63dup
ENST00000356860.7:c.2053+63dup	ENSP00000349320.3:n.2053+63dup
ENST00000443883.1:c.585+63dup
NM_000722.3:c.2053+63dup	NP_000713.2:n.2053+63dup
XM_005250570.1:c.2089+63dup	XP_005250627.1:n.2089+63dup
XM_005250572.1:c.2038+63dup	XP_005250629.1:n.2038+63dup
XM_005250573.1:c.2032+63dup	XP_005250630.1:n.2032+63dup
XM_005250574.1:c.2017+63dup	XP_005250631.1:n.2017+63dup
XM_006716118.1:c.2110+63dup	XP_006716181.1:n.2110+63dup
XM_006716119.2:c.2035+63dup	XP_006716182.1:n.2035+63dup
XM_006716120.2:c.1993+63dup	XP_006716183.1:n.1993+63dup
XM_006716121.2:c.520+63dup	XP_006716184.1:n.520+63dup
XM_011516570.1:c.2110+63dup	XP_011514872.1:n.2110+63dup
XM_011516571.1:c.2095+63dup	XP_011514873.1:n.2095+63dup
XM_011516572.1:c.2074+63dup	XP_011514874.1:n.2074+63dup
XM_011516573.1:c.1879+63dup	XP_011514875.1:n.1879+63dup
NM_001366867.1:c.2089+63dup	NP_001353796.1:n.2089+63dup
XM_005250572.3:c.2038+63dup	XP_005250629.1:n.2038+63dup
XM_005250573.3:c.2032+63dup	XP_005250630.1:n.2032+63dup
XM_005250574.3:c.2017+63dup	XP_005250631.1:n.2017+63dup
XM_006716118.3:c.2110+63dup	XP_006716181.1:n.2110+63dup
XM_006716119.3:c.2035+63dup	XP_006716182.1:n.2035+63dup
XM_006716120.3:c.1993+63dup	XP_006716183.1:n.1993+63dup
XM_006716121.3:c.520+63dup	XP_006716184.1:n.520+63dup
XM_011516570.3:c.2110+63dup	XP_011514872.1:n.2110+63dup
XM_011516571.3:c.2095+63dup	XP_011514873.1:n.2095+63dup
XM_011516572.3:c.2074+63dup	XP_011514874.1:n.2074+63dup
XM_017012588.1:c.1936+63dup	XP_016868077.1:n.1936+63dup
XR_001744873.2:n.2130+63dup
XR_001744874.2:n.2037+63dup
NM_000722.4:c.2053+63dup MANE Select	NP_000713.2:n.2053+63dup