Canonical Allele Identifier: CA305546879

Gene: CACNA1A

Linked Data

• dbSNP Id: rs759279910
• gnomAD v2: 19-13373980-GCTTTT-G
• gnomAD v3: 19-13263166-GCTTTT-G
• gnomAD v4: 19-13263166-GCTTTT-G
• MyVariant Identifiers: chr19:g.13373981_13373985del (hg19) ; chr19:g.13263167_13263171del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13263172_13263176del , CM000681.2:g.13263172_13263176del	GRCh38
NC_000019.9:g.13373986_13373990del , CM000681.1:g.13373986_13373990del	GRCh37
NC_000019.8:g.13234986_13234990del	NCBI36
NG_011569.1:g.248290_248294del , LRG_7:g.248290_248294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.3990-338_3990-334del MANE Select	ENSP00000353362.5:n.3990-338_3990-334del
ENST00000573710.7:c.3996-338_3996-334del	ENSP00000460092.3:n.3996-338_3996-334del
ENST00000635727.1:c.3993-338_3993-334del	ENSP00000490001.1:n.3993-338_3993-334del
ENST00000635895.1:c.3993-338_3993-334del	ENSP00000490323.1:n.3993-338_3993-334del
ENST00000635917.1:n.482-338_482-334del
ENST00000636012.1:c.3993-338_3993-334del	ENSP00000490223.1:n.3993-338_3993-334del
ENST00000636389.1:c.3993-338_3993-334del	ENSP00000489992.1:n.3993-338_3993-334del
ENST00000636549.1:c.3993-338_3993-334del	ENSP00000490578.1:n.3993-338_3993-334del
ENST00000636816.1:n.340_344del
ENST00000637004.1:n.456-338_456-334del
ENST00000637276.1:c.3993-338_3993-334del	ENSP00000489777.1:n.3993-338_3993-334del
ENST00000637432.1:c.4002-338_4002-334del	ENSP00000490617.1:n.4002-338_4002-334del
ENST00000637736.1:c.3852-338_3852-334del	ENSP00000489861.1:n.3852-338_3852-334del
ENST00000637769.1:c.3993-338_3993-334del	ENSP00000489778.1:n.3993-338_3993-334del
ENST00000637927.1:c.3996-338_3996-334del	ENSP00000489715.1:n.3996-338_3996-334del
ENST00000638009.2:c.3993-338_3993-334del	ENSP00000489913.1:n.3993-338_3993-334del
ENST00000638029.1:c.4002-338_4002-334del	ENSP00000489829.1:n.4002-338_4002-334del
ENST00000664864.1:c.4188-338_4188-334del	ENSP00000499449.1:n.4188-338_4188-334del
ENST00000360228.9:c.3990-338_3990-334del	ENSP00000353362.5:n.3990-338_3990-334del
ENST00000573710.6:c.3993-338_3993-334del	ENSP00000460092.2:n.3993-338_3993-334del
ENST00000585802.5:c.48-338_48-334del	ENSP00000465598.1:n.48-338_48-334del
ENST00000614285.4:c.4002-338_4002-334del	ENSP00000479983.1:n.4002-338_4002-334del
NM_000068.3:c.4002-338_4002-334del	NP_000059.3:n.4002-338_4002-334del
NM_001127221.1:c.3993-338_3993-334del , LRG_7t1:c.3993-338_3993-334del	NP_001120693.1:n.3993-338_3993-334del
NM_001127222.1:c.3990-338_3990-334del	NP_001120694.1:n.3990-338_3990-334del
NM_001174080.1:c.3993-338_3993-334del	NP_001167551.1:n.3993-338_3993-334del
NM_023035.2:c.4002-338_4002-334del	NP_075461.2:n.4002-338_4002-334del
NM_000068.4:c.4002-338_4002-334del	NP_000059.3:n.4002-338_4002-334del
NM_001127222.2:c.3990-338_3990-334del MANE Select	NP_001120694.1:n.3990-338_3990-334del
NM_001174080.2:c.3993-338_3993-334del	NP_001167551.1:n.3993-338_3993-334del
NM_023035.3:c.4002-338_4002-334del	NP_075461.2:n.4002-338_4002-334del
NM_001127221.2:c.3993-338_3993-334del	NP_001120693.1:n.3993-338_3993-334del