Canonical Allele Identifier: CA2739291192

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13298778_13298811del , CM000681.2:g.13298778_13298811del	GRCh38
NC_000019.9:g.13409592_13409625del , CM000681.1:g.13409592_13409625del	GRCh37
NC_000019.8:g.13270592_13270625del	NCBI36
NG_011569.1:g.212650_212683del , LRG_7:g.212650_212683del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.2822_2855del MANE Select	ENSP00000353362.5:p.Glu941AlafsTer?
ENST00000573710.7:c.2828_2861del	ENSP00000460092.3:p.Glu943AlafsTer?
ENST00000635727.1:c.2825_2858del	ENSP00000490001.1:p.Glu942AlafsTer?
ENST00000635895.1:c.2825_2858del	ENSP00000490323.1:p.Glu942AlafsTer?
ENST00000636012.1:c.2825_2858del	ENSP00000490223.1:p.Glu942AlafsTer?
ENST00000636389.1:c.2825_2858del	ENSP00000489992.1:p.Glu942AlafsTer?
ENST00000636549.1:c.2825_2858del	ENSP00000490578.1:p.Glu942AlafsTer?
ENST00000637276.1:c.2825_2858del	ENSP00000489777.1:p.Glu942AlafsTer?
ENST00000637432.1:c.2834_2867del	ENSP00000490617.1:p.Glu945AlafsTer?
ENST00000637736.1:c.2684_2717del	ENSP00000489861.1:p.Glu895AlafsTer?
ENST00000637769.1:c.2825_2858del	ENSP00000489778.1:p.Glu942AlafsTer?
ENST00000637927.1:c.2828_2861del	ENSP00000489715.1:p.Glu943AlafsTer?
ENST00000638009.2:c.2825_2858del	ENSP00000489913.1:p.Glu942AlafsTer?
ENST00000638029.1:c.2834_2867del	ENSP00000489829.1:p.Glu945AlafsTer?
ENST00000664864.1:c.3020_3053del	ENSP00000499449.1:p.Glu1007AlafsTer?
ENST00000360228.9:c.2822_2855del	ENSP00000353362.5:p.Glu941AlafsTer?
ENST00000573710.6:c.2825_2858del	ENSP00000460092.2:p.Glu942AlafsTer?
ENST00000614285.4:c.2834_2867del	ENSP00000479983.1:p.Glu945AlafsTer?
NM_000068.3:c.2834_2867del	NP_000059.3:p.Glu945AlafsTer?
NM_001127221.1:c.2825_2858del , LRG_7t1:c.2825_2858del	NP_001120693.1:p.Glu942AlafsTer?
NM_001127222.1:c.2822_2855del	NP_001120694.1:p.Glu941AlafsTer?
NM_001174080.1:c.2825_2858del	NP_001167551.1:p.Glu942AlafsTer?
NM_023035.2:c.2834_2867del	NP_075461.2:p.Glu945AlafsTer?
NM_000068.4:c.2834_2867del	NP_000059.3:p.Glu945AlafsTer?
NM_001127222.2:c.2822_2855del MANE Select	NP_001120694.1:p.Glu941AlafsTer?
NM_001174080.2:c.2825_2858del	NP_001167551.1:p.Glu942AlafsTer?
NM_023035.3:c.2834_2867del	NP_075461.2:p.Glu945AlafsTer?
NM_001127221.2:c.2825_2858del	NP_001120693.1:p.Glu942AlafsTer?