Canonical Allele Identifier: CA2582827026

Gene: CACNA1A

Linked Data

• gnomAD v4: 19-13261770-ATAAGCGTTGGAGGAGTTGGACTCAATCCTGGCATTCTATGGATCTAAAACTCCCAGATGGGATACCAGAGATGCTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13261775_13261851del , CM000681.2:g.13261775_13261851del	GRCh38
NC_000019.9:g.13372589_13372665del , CM000681.1:g.13372589_13372665del	GRCh37
NC_000019.8:g.13233589_13233665del	NCBI36
NG_011569.1:g.249614_249690del , LRG_7:g.249614_249690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4090-237_4090-161del MANE Select	ENSP00000353362.5:n.4090-237_4090-161del
ENST00000573710.7:c.4096-237_4096-161del	ENSP00000460092.3:n.4096-237_4096-161del
ENST00000590205.2:n.859_935del
ENST00000635727.1:c.4093-237_4093-161del	ENSP00000490001.1:n.4093-237_4093-161del
ENST00000635742.1:n.79-237_79-161del
ENST00000635895.1:c.4093-237_4093-161del	ENSP00000490323.1:n.4093-237_4093-161del
ENST00000635917.1:n.582-237_582-161del
ENST00000636012.1:c.4093-237_4093-161del	ENSP00000490223.1:n.4093-237_4093-161del
ENST00000636389.1:c.4093-237_4093-161del	ENSP00000489992.1:n.4093-237_4093-161del
ENST00000636549.1:c.4093-237_4093-161del	ENSP00000490578.1:n.4093-237_4093-161del
ENST00000636816.1:n.778-237_778-161del
ENST00000637004.1:n.556-237_556-161del
ENST00000637276.1:c.4093-237_4093-161del	ENSP00000489777.1:n.4093-237_4093-161del
ENST00000637432.1:c.4102-237_4102-161del	ENSP00000490617.1:n.4102-237_4102-161del
ENST00000637692.1:n.412-237_412-161del
ENST00000637736.1:c.3952-237_3952-161del	ENSP00000489861.1:n.3952-237_3952-161del
ENST00000637769.1:c.4093-237_4093-161del	ENSP00000489778.1:n.4093-237_4093-161del
ENST00000637927.1:c.4096-237_4096-161del	ENSP00000489715.1:n.4096-237_4096-161del
ENST00000638009.2:c.4093-237_4093-161del	ENSP00000489913.1:n.4093-237_4093-161del
ENST00000638029.1:c.4102-237_4102-161del	ENSP00000489829.1:n.4102-237_4102-161del
ENST00000664864.1:c.4288-237_4288-161del	ENSP00000499449.1:n.4288-237_4288-161del
ENST00000360228.9:c.4090-237_4090-161del	ENSP00000353362.5:n.4090-237_4090-161del
ENST00000573710.6:c.4093-237_4093-161del	ENSP00000460092.2:n.4093-237_4093-161del
ENST00000585802.5:c.148-237_148-161del	ENSP00000465598.1:n.148-237_148-161del
ENST00000590205.1:n.169-237_169-161del
ENST00000614285.4:c.4102-237_4102-161del	ENSP00000479983.1:n.4102-237_4102-161del
NM_000068.3:c.4102-237_4102-161del	NP_000059.3:n.4102-237_4102-161del
NM_001127221.1:c.4093-237_4093-161del , LRG_7t1:c.4093-237_4093-161del	NP_001120693.1:n.4093-237_4093-161del
NM_001127222.1:c.4090-237_4090-161del	NP_001120694.1:n.4090-237_4090-161del
NM_001174080.1:c.4093-237_4093-161del	NP_001167551.1:n.4093-237_4093-161del
NM_023035.2:c.4102-237_4102-161del	NP_075461.2:n.4102-237_4102-161del
NM_000068.4:c.4102-237_4102-161del	NP_000059.3:n.4102-237_4102-161del
NM_001127222.2:c.4090-237_4090-161del MANE Select	NP_001120694.1:n.4090-237_4090-161del
NM_001174080.2:c.4093-237_4093-161del	NP_001167551.1:n.4093-237_4093-161del
NM_023035.3:c.4102-237_4102-161del	NP_075461.2:n.4102-237_4102-161del
NM_001127221.2:c.4093-237_4093-161del	NP_001120693.1:n.4093-237_4093-161del