Canonical Allele Identifier: CA212164

Gene: AKAP12

Linked Data

• ClinVar Variation Id: 157031
• ClinVar RCV Id: RCV000161457
• MyVariant Identifiers: chr6:g.151618235_151621611del (hg19) ; chr6:g.151297100_151300476del (hg38)
• PubMed: PMID:25666259

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151297100_151300476del , CM000668.2:g.151297100_151300476del	GRCh38
NC_000006.11:g.151618235_151621611del , CM000668.1:g.151618235_151621611del	GRCh37
NC_000006.10:g.151659928_151663304del	NCBI36
NG_029875.1:g.62102_65478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402676.7:c.163-8647_163-5271del MANE Select	ENSP00000384537.2:n.163-8647_163-5271del
ENST00000253332.5:c.163-8647_163-5271del	ENSP00000253332.1:n.163-8647_163-5271del
ENST00000402676.6:c.163-8647_163-5271del	ENSP00000384537.2:n.163-8647_163-5271del
NM_005100.3:c.163-8647_163-5271del	NP_005091.2:n.163-8647_163-5271del
XM_005267233.1:c.163-8647_163-5271del	XP_005267290.1:n.163-8647_163-5271del
XM_017011517.2:c.163-8647_163-5271del	XP_016867006.1:n.163-8647_163-5271del
NM_005100.4:c.163-8647_163-5271del MANE Select	NP_005091.2:n.163-8647_163-5271del