Canonical Allele Identifier: CA2573158172

Gene: APOL1

Linked Data

• ClinVar Variation Id: 1443279
• ClinVar RCV Id: RCV001955524
• dbSNP Id: rs2146311262

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36265176dup , CM000684.2:g.36265176dup	GRCh38
NC_000022.10:g.36661222dup , CM000684.1:g.36661222dup	GRCh37
NC_000022.9:g.34991168dup	NCBI36
NG_023228.1:g.17106dup , LRG_169:g.17106dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427990.6:c.340dup	ENSP00000391302.2:p.Ala114GlyfsTer19
ENST00000433768.6:c.*102dup	ENSP00000392514.1:n.*102dup
ENST00000438034.6:c.427dup	ENSP00000404525.2:p.Ala143GlyfsTer19
ENST00000397278.8:c.340dup MANE Select	ENSP00000380448.4:p.Ala114GlyfsTer19
ENST00000319136.8:c.388dup	ENSP00000317674.4:p.Ala130GlyfsTer19
ENST00000397278.7:c.340dup	ENSP00000380448.3:p.Ala114GlyfsTer19
ENST00000397279.8:c.340dup	ENSP00000380449.4:p.Ala114GlyfsTer19
ENST00000422706.5:c.340dup	ENSP00000411507.1:p.Ala114GlyfsTer19
ENST00000426053.5:c.286dup	ENSP00000388477.1:p.Ala96GlyfsTer19
ENST00000427990.5:c.340dup	ENSP00000391302.1:p.Ala114GlyfsTer19
NM_001136540.1:c.340dup	NP_001130012.1:p.Ala114GlyfsTer19
NM_001136541.1:c.286dup	NP_001130013.1:p.Ala96GlyfsTer19
NM_003661.3:c.340dup	NP_003652.2:p.Ala114GlyfsTer19
NM_145343.2:c.388dup , LRG_169t1:c.388dup	NP_663318.1:p.Ala130GlyfsTer19
XM_005261796.2:c.286dup	XP_005261853.1:p.Ala96GlyfsTer19
XM_011530478.1:c.-24dup	XP_011528780.1:n.-24dup
NM_001362927.1:c.286dup	NP_001349856.1:p.Ala96GlyfsTer19
XM_011530478.2:c.-24dup	XP_011528780.1:n.-24dup
NM_001362927.2:c.286dup	NP_001349856.1:p.Ala96GlyfsTer19
NM_003661.4:c.340dup MANE Select	NP_003652.2:p.Ala114GlyfsTer19
NM_001136540.2:c.340dup	NP_001130012.1:p.Ala114GlyfsTer19
NM_001136541.2:c.286dup	NP_001130013.1:p.Ala96GlyfsTer19
NM_145343.3:c.388dup	NP_663318.1:p.Ala130GlyfsTer19