Canonical Allele Identifier: CA2683539878

Gene: CACNA2D1

Linked Data

• gnomAD v4: 7-81974534-C-CAGGTCATTGCAGTAATCTCTGAAAAAAAAACATTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974537_81974573dup , CM000669.2:g.81974537_81974573dup	GRCh38
NC_000007.13:g.81603853_81603889dup , CM000669.1:g.81603853_81603889dup	GRCh37
NC_000007.12:g.81441789_81441825dup	NCBI36
NG_009358.2:g.474145_474181dup , LRG_437:g.474145_474181dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000443883.2:c.1992-19_2009dup
ENST00000705961.1:c.1723-19_1740dup
ENST00000705962.1:c.1836-19_1853dup
ENST00000356860.8:c.1956-19_1973dup
ENST00000356253.9:c.1992-19_2009dup
ENST00000356860.7:c.1956-19_1973dup
ENST00000443883.1:c.488-19_505dup
NM_000722.3:c.1956-19_1973dup
XM_005250570.1:c.1992-19_2009dup
XM_005250572.1:c.1941-19_1958dup
XM_005250573.1:c.1935-19_1952dup
XM_005250574.1:c.1920-19_1937dup
XM_006716118.1:c.2013-19_2030dup
XM_006716119.2:c.1938-19_1955dup
XM_006716120.2:c.1896-19_1913dup
XM_006716121.2:c.423-19_440dup
XM_011516570.1:c.2013-19_2030dup
XM_011516571.1:c.1998-19_2015dup
XM_011516572.1:c.1977-19_1994dup
XM_011516573.1:c.1782-19_1799dup
NM_001366867.1:c.1992-19_2009dup
XM_005250572.3:c.1941-19_1958dup
XM_005250573.3:c.1935-19_1952dup
XM_005250574.3:c.1920-19_1937dup
XM_006716118.3:c.2013-19_2030dup
XM_006716119.3:c.1938-19_1955dup
XM_006716120.3:c.1896-19_1913dup
XM_006716121.3:c.423-19_440dup
XM_011516570.3:c.2013-19_2030dup
XM_011516571.3:c.1998-19_2015dup
XM_011516572.3:c.1977-19_1994dup
XM_017012588.1:c.1839-19_1856dup
XR_001744873.2:n.2033-19_2050dup
XR_001744874.2:n.1940-19_1957dup
NM_000722.4:c.1956-19_1973dup