Canonical Allele Identifier: CA117932

Gene: APOL1

Linked Data

• ClinVar Variation Id: 6081
• ClinVar RCV Id: RCV000006454 ; RCV001003838 ; RCV001003839 ; RCV001195105 ; RCV001295848
• dbSNP Id: rs71785313
• ExAC: 22:36662041 AATAATT / A
• gnomAD v2: 22-36662041-AATAATT-A
• gnomAD v3: 22-36265995-AATAATT-A
• gnomAD v4: 22-36265995-AATAATT-A
• MyVariant Identifiers: chr22:g.36662046_36662051del (hg19) ; chr22:g.36662042_36662047del (hg19) ; chr22:g.36266000_36266005del (hg38) ; chr22:g.36265997_36266002del (hg38) ; chr22:g.36265996_36266001del (hg38)
• PubMed: PMID:20635188 ; PMID:20647424 ; PMID:20668430 ; PMID:24206458

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36266000_36266005del , CM000684.2:g.36266000_36266005del	GRCh38
NC_000022.10:g.36662046_36662051del , CM000684.1:g.36662046_36662051del	GRCh37
NC_000022.9:g.34991992_34991997del	NCBI36
NG_023228.1:g.17930_17935del , LRG_169:g.17930_17935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427990.6:c.1164_1169del	ENSP00000391302.2:p.Asn388_Tyr389del
ENST00000433768.6:c.*926_*931del	ENSP00000392514.1:n.*926_*931del
ENST00000438034.6:c.1251_1256del	ENSP00000404525.2:p.Asn417_Tyr418del
ENST00000397278.8:c.1164_1169del MANE Select	ENSP00000380448.4:p.Asn388_Tyr389del
ENST00000319136.8:c.1212_1217del	ENSP00000317674.4:p.Asn404_Tyr405del
ENST00000397278.7:c.1164_1169del	ENSP00000380448.3:p.Asn388_Tyr389del
ENST00000397279.8:c.1164_1169del	ENSP00000380449.4:p.Asn388_Tyr389del
ENST00000422706.5:c.1164_1169del	ENSP00000411507.1:p.Asn388_Tyr389del
ENST00000426053.5:c.1110_1115del	ENSP00000388477.1:p.Asn370_Tyr371del
NM_001136540.1:c.1164_1169del	NP_001130012.1:p.Asn388_Tyr389del
NM_001136541.1:c.1110_1115del	NP_001130013.1:p.Asn370_Tyr371del
NM_003661.3:c.1164_1169del	NP_003652.2:p.Asn388_Tyr389del
NM_145343.2:c.1212_1217del , LRG_169t1:c.1212_1217del	NP_663318.1:p.Asn404_Tyr405del
XM_005261796.2:c.1110_1115del	XP_005261853.1:p.Asn370_Tyr371del
XM_011530478.1:c.801_806del	XP_011528780.1:p.Asn267_Tyr268del
NM_001362927.1:c.1110_1115del	NP_001349856.1:p.Asn370_Tyr371del
XM_011530478.2:c.801_806del	XP_011528780.1:p.Asn267_Tyr268del
NM_001362927.2:c.1110_1115del	NP_001349856.1:p.Asn370_Tyr371del
NM_003661.4:c.1164_1169del MANE Select	NP_003652.2:p.Asn388_Tyr389del
NM_001136540.2:c.1164_1169del	NP_001130012.1:p.Asn388_Tyr389del
NM_001136541.2:c.1110_1115del	NP_001130013.1:p.Asn370_Tyr371del
NM_145343.3:c.1212_1217del	NP_663318.1:p.Asn404_Tyr405del