Canonical Allele Identifier: CA2582827720

Gene: CACNA1A

Linked Data

• gnomAD v4: 19-13262947-G-GCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262947_13262948insCT , CM000681.2:g.13262947_13262948insCT	GRCh38
NC_000019.9:g.13373761_13373762insCT , CM000681.1:g.13373761_13373762insCT	GRCh37
NC_000019.8:g.13234761_13234762insCT	NCBI36
NG_011569.1:g.248513_248514insAG , LRG_7:g.248513_248514insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.3990-115_3990-114insAG MANE Select	ENSP00000353362.5:n.3990-115_3990-114insAG
ENST00000573710.7:c.3996-115_3996-114insAG	ENSP00000460092.3:n.3996-115_3996-114insAG
ENST00000635727.1:c.3993-115_3993-114insAG	ENSP00000490001.1:n.3993-115_3993-114insAG
ENST00000635895.1:c.3993-115_3993-114insAG	ENSP00000490323.1:n.3993-115_3993-114insAG
ENST00000635917.1:n.482-115_482-114insAG
ENST00000636012.1:c.3993-115_3993-114insAG	ENSP00000490223.1:n.3993-115_3993-114insAG
ENST00000636389.1:c.3993-115_3993-114insAG	ENSP00000489992.1:n.3993-115_3993-114insAG
ENST00000636549.1:c.3993-115_3993-114insAG	ENSP00000490578.1:n.3993-115_3993-114insAG
ENST00000636816.1:n.563_564insAG
ENST00000637004.1:n.456-115_456-114insAG
ENST00000637276.1:c.3993-115_3993-114insAG	ENSP00000489777.1:n.3993-115_3993-114insAG
ENST00000637432.1:c.4002-115_4002-114insAG	ENSP00000490617.1:n.4002-115_4002-114insAG
ENST00000637692.1:n.197_198insAG
ENST00000637736.1:c.3852-115_3852-114insAG	ENSP00000489861.1:n.3852-115_3852-114insAG
ENST00000637769.1:c.3993-115_3993-114insAG	ENSP00000489778.1:n.3993-115_3993-114insAG
ENST00000637927.1:c.3996-115_3996-114insAG	ENSP00000489715.1:n.3996-115_3996-114insAG
ENST00000638009.2:c.3993-115_3993-114insAG	ENSP00000489913.1:n.3993-115_3993-114insAG
ENST00000638029.1:c.4002-115_4002-114insAG	ENSP00000489829.1:n.4002-115_4002-114insAG
ENST00000664864.1:c.4188-115_4188-114insAG	ENSP00000499449.1:n.4188-115_4188-114insAG
ENST00000360228.9:c.3990-115_3990-114insAG	ENSP00000353362.5:n.3990-115_3990-114insAG
ENST00000573710.6:c.3993-115_3993-114insAG	ENSP00000460092.2:n.3993-115_3993-114insAG
ENST00000585802.5:c.48-115_48-114insAG	ENSP00000465598.1:n.48-115_48-114insAG
ENST00000614285.4:c.4002-115_4002-114insAG	ENSP00000479983.1:n.4002-115_4002-114insAG
NM_000068.3:c.4002-115_4002-114insAG	NP_000059.3:n.4002-115_4002-114insAG
NM_001127221.1:c.3993-115_3993-114insAG , LRG_7t1:c.3993-115_3993-114insAG	NP_001120693.1:n.3993-115_3993-114insAG
NM_001127222.1:c.3990-115_3990-114insAG	NP_001120694.1:n.3990-115_3990-114insAG
NM_001174080.1:c.3993-115_3993-114insAG	NP_001167551.1:n.3993-115_3993-114insAG
NM_023035.2:c.4002-115_4002-114insAG	NP_075461.2:n.4002-115_4002-114insAG
NM_000068.4:c.4002-115_4002-114insAG	NP_000059.3:n.4002-115_4002-114insAG
NM_001127222.2:c.3990-115_3990-114insAG MANE Select	NP_001120694.1:n.3990-115_3990-114insAG
NM_001174080.2:c.3993-115_3993-114insAG	NP_001167551.1:n.3993-115_3993-114insAG
NM_023035.3:c.4002-115_4002-114insAG	NP_075461.2:n.4002-115_4002-114insAG
NM_001127221.2:c.3993-115_3993-114insAG	NP_001120693.1:n.3993-115_3993-114insAG