Canonical Allele Identifier: CA2617054864

Gene: CACNA2D4

Linked Data

• gnomAD v4: 12-1918639-C-CCTCTTTCTCCTCCCAAAAGCTCTGTGAGTTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1918639_1918640insCTCTTTCTCCTCCCAAAAGCTCTGTGAGTTCT , CM000674.2:g.1918639_1918640insCTCTTTCTCCTCCCAAAAGCTCTGTGAGTTCT	GRCh38
NC_000012.11:g.2027805_2027806insCTCTTTCTCCTCCCAAAAGCTCTGTGAGTTCT , CM000674.1:g.2027805_2027806insCTCTTTCTCCTCCCAAAAGCTCTGTGAGTTCT	GRCh37
NC_000012.10:g.1898066_1898067insCTCTTTCTCCTCCCAAAAGCTCTGTGAGTTCT	NCBI36
NG_012663.1:g.5065_5066insAGAACTCACAGAGCTTTTGGGAGGAGAAAGAG
NG_012663.2:g.5065_5066insAGAACTCACAGAGCTTTTGGGAGGAGAAAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382722.10:c.-167_-166insAGAACTCACAGAGCTTTTGGGAGGAGAAAGAG MANE Select	ENSP00000372169.4:n.-167_-166insAGAACTCACAGAGCTTTTGGGAGGAGAAA...
ENST00000280663.12:n.27_28insAGAACTCACAGAGCTTTTGGGAGGAGAAAGAG
ENST00000382722.9:c.-167_-166insAGAACTCACAGAGCTTTTGGGAGGAGAAAGAG	ENSP00000372169.4:n.-167_-166insAGAACTCACAGAGCTTTTGGGAGGAGAAA...
NM_172364.4:c.-167_-166insAGAACTCACAGAGCTTTTGGGAGGAGAAAGAG	NP_758952.4:n.-167_-166insAGAACTCACAGAGCTTTTGGGAGGAGAAAGAG
XM_011521041.1:c.-167_-166insAGAACTCACAGAGCTTTTGGGAGGAGAAAGAG	XP_011519343.1:n.-167_-166insAGAACTCACAGAGCTTTTGGGAGGAGAAAGAG...
XR_931529.1:n.2226_2227insAGAACTCACAGAGCTTTTGGGAGGAGAAAGAG
XR_931530.1:n.2226_2227insAGAACTCACAGAGCTTTTGGGAGGAGAAAGAG
XR_931531.1:n.2226_2227insAGAACTCACAGAGCTTTTGGGAGGAGAAAGAG
XM_011521041.2:c.-167_-166insAGAACTCACAGAGCTTTTGGGAGGAGAAAGAG	XP_011519343.1:n.-167_-166insAGAACTCACAGAGCTTTTGGGAGGAGAAAGAG...
XR_002957441.1:n.1849+610_1849+611insCTCTTTCTCCTCCCAAAAGCTCTGTGAGTTCT
NM_172364.5:c.-167_-166insAGAACTCACAGAGCTTTTGGGAGGAGAAAGAG MANE Select	NP_758952.4:n.-167_-166insAGAACTCACAGAGCTTTTGGGAGGAGAAAGAG