Canonical Allele Identifier: CA2661497247

Gene: CACNB4

Linked Data

• gnomAD v4: 2-152098803-TGGAGGAGGGGTGGGGGGAGCGGGGCCGCCGACTCCCGGGACTGGGGCCCCGCACGCCCGGCACGAAGGCGGGGCGCGCTAGGGCGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.152098812_152098898del , CM000664.2:g.152098812_152098898del	GRCh38
NC_000002.11:g.152955326_152955412del , CM000664.1:g.152955326_152955412del	GRCh37
NC_000002.10:g.152663572_152663658del	NCBI36
NG_012641.1:g.5190_5276del

Transcript Alleles

HGVS	Amino-acid change
ENST00000201943.10:c.63+59_63+145del	ENSP00000201943.5:n.63+59_63+145del
ENST00000427385.6:c.63+59_63+145del	ENSP00000410978.2:n.63+59_63+145del
ENST00000470066.2:n.192+59_192+145del
ENST00000539935.7:c.63+59_63+145del MANE Select	ENSP00000438949.1:n.63+59_63+145del
ENST00000637309.1:c.63+59_63+145del	ENSP00000490127.1:n.63+59_63+145del
ENST00000201943.9:c.63+59_63+145del	ENSP00000201943.5:n.63+59_63+145del
ENST00000539935.5:c.63+59_63+145del	ENSP00000438949.1:n.63+59_63+145del
NM_000726.3:c.63+59_63+145del	NP_000717.2:n.63+59_63+145del
NM_001145798.1:c.63+59_63+145del	NP_001139270.1:n.63+59_63+145del
XM_011511797.1:c.63+59_63+145del	XP_011510099.1:n.63+59_63+145del
XM_011511798.1:c.63+59_63+145del	XP_011510100.1:n.63+59_63+145del
XM_011511799.1:c.63+59_63+145del	XP_011510101.1:n.63+59_63+145del
XR_923022.1:n.1040+59_1040+145del
XR_923023.1:n.1040+59_1040+145del
NM_000726.4:c.63+59_63+145del	NP_000717.2:n.63+59_63+145del
NM_001145798.2:c.63+59_63+145del	NP_001139270.1:n.63+59_63+145del
XM_011511797.3:c.63+59_63+145del	XP_011510099.1:n.63+59_63+145del
XR_002959337.1:n.216+59_216+145del
XR_923022.3:n.216+59_216+145del
NM_000726.5:c.63+59_63+145del MANE Select	NP_000717.2:n.63+59_63+145del