Canonical Allele Identifier: CA1037891393

Gene: CACNB4

Linked Data

• dbSNP Id: rs1688435264
• gnomAD v3: 2-152098848-GGCCCCGCAC-G
• gnomAD v4: 2-152098848-GGCCCCGCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.152098853_152098861del , CM000664.2:g.152098853_152098861del	GRCh38
NC_000002.11:g.152955367_152955375del , CM000664.1:g.152955367_152955375del	GRCh37
NC_000002.10:g.152663613_152663621del	NCBI36
NG_012641.1:g.5223_5231del

Transcript Alleles

HGVS	Amino-acid change
ENST00000201943.10:c.63+92_63+100del	ENSP00000201943.5:n.63+92_63+100del
ENST00000427385.6:c.63+92_63+100del	ENSP00000410978.2:n.63+92_63+100del
ENST00000470066.2:n.192+92_192+100del
ENST00000539935.7:c.63+92_63+100del MANE Select	ENSP00000438949.1:n.63+92_63+100del
ENST00000637309.1:c.63+92_63+100del	ENSP00000490127.1:n.63+92_63+100del
ENST00000201943.9:c.63+92_63+100del	ENSP00000201943.5:n.63+92_63+100del
ENST00000539935.5:c.63+92_63+100del	ENSP00000438949.1:n.63+92_63+100del
NM_000726.3:c.63+92_63+100del	NP_000717.2:n.63+92_63+100del
NM_001145798.1:c.63+92_63+100del	NP_001139270.1:n.63+92_63+100del
XM_011511797.1:c.63+92_63+100del	XP_011510099.1:n.63+92_63+100del
XM_011511798.1:c.63+92_63+100del	XP_011510100.1:n.63+92_63+100del
XM_011511799.1:c.63+92_63+100del	XP_011510101.1:n.63+92_63+100del
XR_923022.1:n.1040+92_1040+100del
XR_923023.1:n.1040+92_1040+100del
NM_000726.4:c.63+92_63+100del	NP_000717.2:n.63+92_63+100del
NM_001005746.3:c.-208_-200del	NP_001005746.1:n.-208_-200del
NM_001145798.2:c.63+92_63+100del	NP_001139270.1:n.63+92_63+100del
NM_001330113.1:c.-208_-200del	NP_001317042.1:n.-208_-200del
XM_011511797.3:c.63+92_63+100del	XP_011510099.1:n.63+92_63+100del
XR_002959337.1:n.216+92_216+100del
XR_923022.3:n.216+92_216+100del
NM_000726.5:c.63+92_63+100del MANE Select	NP_000717.2:n.63+92_63+100del