Canonical Allele Identifier: CA2741614791

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13261605_13261606insCTTCTAGCAATTT , CM000681.2:g.13261605_13261606insCTTCTAGCAATTT	GRCh38
NC_000019.9:g.13372419_13372420insCTTCTAGCAATTT , CM000681.1:g.13372419_13372420insCTTCTAGCAATTT	GRCh37
NC_000019.8:g.13233419_13233420insCTTCTAGCAATTT	NCBI36
NG_011569.1:g.249855_249856insAAATTGCTAGAAG , LRG_7:g.249855_249856insAAATTGCTAGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4094_4095insAAATTGCTAGAAG MANE Select	ENSP00000353362.5:p.Phe1366AsnfsTer3
ENST00000573710.7:c.4100_4101insAAATTGCTAGAAG	ENSP00000460092.3:p.Phe1368AsnfsTer3
ENST00000590205.2:n.1100_1101insAAATTGCTAGAAG
ENST00000635727.1:c.4097_4098insAAATTGCTAGAAG	ENSP00000490001.1:p.Phe1367AsnfsTer3
ENST00000635742.1:n.83_84insAAATTGCTAGAAG
ENST00000635895.1:c.4097_4098insAAATTGCTAGAAG	ENSP00000490323.1:p.Phe1367AsnfsTer3
ENST00000635917.1:n.586_587insAAATTGCTAGAAG
ENST00000636012.1:c.4097_4098insAAATTGCTAGAAG	ENSP00000490223.1:p.Phe1367AsnfsTer3
ENST00000636389.1:c.4097_4098insAAATTGCTAGAAG	ENSP00000489992.1:p.Phe1367AsnfsTer3
ENST00000636549.1:c.4097_4098insAAATTGCTAGAAG	ENSP00000490578.1:p.Phe1367AsnfsTer3
ENST00000636816.1:n.782_783insAAATTGCTAGAAG
ENST00000637004.1:n.560_561insAAATTGCTAGAAG
ENST00000637276.1:c.4097_4098insAAATTGCTAGAAG	ENSP00000489777.1:p.Phe1367AsnfsTer3
ENST00000637432.1:c.4106_4107insAAATTGCTAGAAG	ENSP00000490617.1:p.Phe1370AsnfsTer3
ENST00000637692.1:n.416_417insAAATTGCTAGAAG
ENST00000637736.1:c.3956_3957insAAATTGCTAGAAG	ENSP00000489861.1:p.Phe1320AsnfsTer3
ENST00000637769.1:c.4097_4098insAAATTGCTAGAAG	ENSP00000489778.1:p.Phe1367AsnfsTer3
ENST00000637927.1:c.4100_4101insAAATTGCTAGAAG	ENSP00000489715.1:p.Phe1368AsnfsTer3
ENST00000638009.2:c.4097_4098insAAATTGCTAGAAG	ENSP00000489913.1:p.Phe1367AsnfsTer3
ENST00000638029.1:c.4106_4107insAAATTGCTAGAAG	ENSP00000489829.1:p.Phe1370AsnfsTer3
ENST00000664864.1:c.4292_4293insAAATTGCTAGAAG	ENSP00000499449.1:p.Phe1432AsnfsTer3
ENST00000360228.9:c.4094_4095insAAATTGCTAGAAG	ENSP00000353362.5:p.Phe1366AsnfsTer3
ENST00000573710.6:c.4097_4098insAAATTGCTAGAAG	ENSP00000460092.2:p.Phe1367AsnfsTer3
ENST00000585802.5:c.152_153insAAATTGCTAGAAG	ENSP00000465598.1:p.Phe52AsnfsTer3
ENST00000590205.1:n.173_174insAAATTGCTAGAAG
ENST00000614285.4:c.4106_4107insAAATTGCTAGAAG	ENSP00000479983.1:p.Phe1370AsnfsTer3
NM_000068.3:c.4106_4107insAAATTGCTAGAAG	NP_000059.3:p.Phe1370AsnfsTer3
NM_001127221.1:c.4097_4098insAAATTGCTAGAAG , LRG_7t1:c.4097_4098insAAATTGCTAGAAG	NP_001120693.1:p.Phe1367AsnfsTer3
NM_001127222.1:c.4094_4095insAAATTGCTAGAAG	NP_001120694.1:p.Phe1366AsnfsTer3
NM_001174080.1:c.4097_4098insAAATTGCTAGAAG	NP_001167551.1:p.Phe1367AsnfsTer3
NM_023035.2:c.4106_4107insAAATTGCTAGAAG	NP_075461.2:p.Phe1370AsnfsTer3
NM_000068.4:c.4106_4107insAAATTGCTAGAAG	NP_000059.3:p.Phe1370AsnfsTer3
NM_001127222.2:c.4094_4095insAAATTGCTAGAAG MANE Select	NP_001120694.1:p.Phe1366AsnfsTer3
NM_001174080.2:c.4097_4098insAAATTGCTAGAAG	NP_001167551.1:p.Phe1367AsnfsTer3
NM_023035.3:c.4106_4107insAAATTGCTAGAAG	NP_075461.2:p.Phe1370AsnfsTer3
NM_001127221.2:c.4097_4098insAAATTGCTAGAAG	NP_001120693.1:p.Phe1367AsnfsTer3