Canonical Allele Identifier: CA2582818876

Gene: CACNA1A

Linked Data

• gnomAD v4: 19-13235111-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235111_13235112insA , CM000681.2:g.13235111_13235112insA	GRCh38
NC_000019.9:g.13345925_13345926insA , CM000681.1:g.13345925_13345926insA	GRCh37
NC_000019.8:g.13206925_13206926insA	NCBI36
NG_011569.1:g.276349_276350insT , LRG_7:g.276349_276350insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5134-76_5134-75insT MANE Select	ENSP00000353362.5:n.5134-76_5134-75insT
ENST00000573710.7:c.5140-76_5140-75insT	ENSP00000460092.3:n.5140-76_5140-75insT
ENST00000573891.6:c.553-76_553-75insT
ENST00000574822.6:n.358-76_358-75insT
ENST00000585802.6:c.295-76_295-75insT	ENSP00000465598.2:n.295-76_295-75insT
ENST00000593267.2:n.339-76_339-75insT
ENST00000635727.1:c.5137-76_5137-75insT	ENSP00000490001.1:n.5137-76_5137-75insT
ENST00000635742.1:n.1123-76_1123-75insT
ENST00000635895.1:c.5137-76_5137-75insT	ENSP00000490323.1:n.5137-76_5137-75insT
ENST00000636012.1:c.5137-76_5137-75insT	ENSP00000490223.1:n.5137-76_5137-75insT
ENST00000636058.1:c.449-76_449-75insT
ENST00000636389.1:c.5137-76_5137-75insT	ENSP00000489992.1:n.5137-76_5137-75insT
ENST00000636473.1:c.229-76_229-75insT	ENSP00000490173.1:n.229-76_229-75insT
ENST00000636549.1:c.5143-76_5143-75insT	ENSP00000490578.1:n.5143-76_5143-75insT
ENST00000637276.1:c.5137-76_5137-75insT	ENSP00000489777.1:n.5137-76_5137-75insT
ENST00000637297.1:c.430-76_430-75insT	ENSP00000489692.1:n.430-76_430-75insT
ENST00000637432.1:c.5152-76_5152-75insT	ENSP00000490617.1:n.5152-76_5152-75insT
ENST00000637736.1:c.4996-76_4996-75insT	ENSP00000489861.1:n.4996-76_4996-75insT
ENST00000637769.1:c.5137-76_5137-75insT	ENSP00000489778.1:n.5137-76_5137-75insT
ENST00000637777.1:c.328-76_328-75insT
ENST00000637809.1:n.527-76_527-75insT
ENST00000637819.1:c.538-76_538-75insT	ENSP00000490686.1:n.538-76_538-75insT
ENST00000637832.1:n.128-76_128-75insT
ENST00000637927.1:c.5140-76_5140-75insT	ENSP00000489715.1:n.5140-76_5140-75insT
ENST00000638009.2:c.5137-76_5137-75insT	ENSP00000489913.1:n.5137-76_5137-75insT
ENST00000638029.1:c.5152-76_5152-75insT	ENSP00000489829.1:n.5152-76_5152-75insT
ENST00000664864.1:c.5338-76_5338-75insT	ENSP00000499449.1:n.5338-76_5338-75insT
ENST00000360228.9:c.5134-76_5134-75insT	ENSP00000353362.5:n.5134-76_5134-75insT
ENST00000573710.6:c.5137-76_5137-75insT	ENSP00000460092.2:n.5137-76_5137-75insT
ENST00000573891.5:c.553-76_553-75insT
ENST00000574822.5:n.358-76_358-75insT
ENST00000585802.5:c.1192-76_1192-75insT	ENSP00000465598.1:n.1192-76_1192-75insT
ENST00000587525.5:c.595-76_595-75insT	ENSP00000467729.1:n.595-76_595-75insT
ENST00000593267.1:n.339-76_339-75insT
ENST00000614285.4:c.5152-76_5152-75insT	ENSP00000479983.1:n.5152-76_5152-75insT
NM_000068.3:c.5152-76_5152-75insT	NP_000059.3:n.5152-76_5152-75insT
NM_001127221.1:c.5137-76_5137-75insT , LRG_7t1:c.5137-76_5137-75insT	NP_001120693.1:n.5137-76_5137-75insT
NM_001127222.1:c.5134-76_5134-75insT	NP_001120694.1:n.5134-76_5134-75insT
NM_001174080.1:c.5143-76_5143-75insT	NP_001167551.1:n.5143-76_5143-75insT
NM_023035.2:c.5152-76_5152-75insT	NP_075461.2:n.5152-76_5152-75insT
NM_000068.4:c.5152-76_5152-75insT	NP_000059.3:n.5152-76_5152-75insT
NM_001127222.2:c.5134-76_5134-75insT MANE Select	NP_001120694.1:n.5134-76_5134-75insT
NM_001174080.2:c.5143-76_5143-75insT	NP_001167551.1:n.5143-76_5143-75insT
NM_023035.3:c.5152-76_5152-75insT	NP_075461.2:n.5152-76_5152-75insT
NM_001127221.2:c.5137-76_5137-75insT	NP_001120693.1:n.5137-76_5137-75insT