Canonical Allele Identifier: CA2582833348

Gene: CACNA1A

Linked Data

• gnomAD v4: 19-13298684-G-GCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13298686_13298689dup , CM000681.2:g.13298686_13298689dup	GRCh38
NC_000019.9:g.13409500_13409503dup , CM000681.1:g.13409500_13409503dup	GRCh37
NC_000019.8:g.13270500_13270503dup	NCBI36
NG_011569.1:g.212773_212776dup , LRG_7:g.212773_212776dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.2945_2948dup MANE Select	ENSP00000353362.5:p.Ser983ArgfsTer?
ENST00000573710.7:c.2951_2954dup	ENSP00000460092.3:p.Ser985ArgfsTer?
ENST00000635727.1:c.2948_2951dup	ENSP00000490001.1:p.Ser984ArgfsTer?
ENST00000635895.1:c.2948_2951dup	ENSP00000490323.1:p.Ser984ArgfsTer?
ENST00000636012.1:c.2948_2951dup	ENSP00000490223.1:p.Ser984ArgfsTer?
ENST00000636389.1:c.2948_2951dup	ENSP00000489992.1:p.Ser984ArgfsTer?
ENST00000636549.1:c.2948_2951dup	ENSP00000490578.1:p.Ser984ArgfsTer?
ENST00000637276.1:c.2948_2951dup	ENSP00000489777.1:p.Ser984ArgfsTer?
ENST00000637432.1:c.2957_2960dup	ENSP00000490617.1:p.Ser987ArgfsTer?
ENST00000637736.1:c.2807_2810dup	ENSP00000489861.1:p.Ser937ArgfsTer?
ENST00000637769.1:c.2948_2951dup	ENSP00000489778.1:p.Ser984ArgfsTer?
ENST00000637927.1:c.2951_2954dup	ENSP00000489715.1:p.Ser985ArgfsTer?
ENST00000638009.2:c.2948_2951dup	ENSP00000489913.1:p.Ser984ArgfsTer?
ENST00000638029.1:c.2957_2960dup	ENSP00000489829.1:p.Ser987ArgfsTer?
ENST00000664864.1:c.3143_3146dup	ENSP00000499449.1:p.Ser1049ArgfsTer?
ENST00000360228.9:c.2945_2948dup	ENSP00000353362.5:p.Ser983ArgfsTer?
ENST00000573710.6:c.2948_2951dup	ENSP00000460092.2:p.Ser984ArgfsTer?
ENST00000614285.4:c.2957_2960dup	ENSP00000479983.1:p.Ser987ArgfsTer?
NM_000068.3:c.2957_2960dup	NP_000059.3:p.Ser987ArgfsTer?
NM_001127221.1:c.2948_2951dup , LRG_7t1:c.2948_2951dup	NP_001120693.1:p.Ser984ArgfsTer?
NM_001127222.1:c.2945_2948dup	NP_001120694.1:p.Ser983ArgfsTer?
NM_001174080.1:c.2948_2951dup	NP_001167551.1:p.Ser984ArgfsTer?
NM_023035.2:c.2957_2960dup	NP_075461.2:p.Ser987ArgfsTer?
NM_000068.4:c.2957_2960dup	NP_000059.3:p.Ser987ArgfsTer?
NM_001127222.2:c.2945_2948dup MANE Select	NP_001120694.1:p.Ser983ArgfsTer?
NM_001174080.2:c.2948_2951dup	NP_001167551.1:p.Ser984ArgfsTer?
NM_023035.3:c.2957_2960dup	NP_075461.2:p.Ser987ArgfsTer?
NM_001127221.2:c.2948_2951dup	NP_001120693.1:p.Ser984ArgfsTer?