Canonical Allele Identifier: CA10628316

Gene: AGK DENND11

Linked Data

• ClinVar Variation Id: 359067
• ClinVar RCV Id: RCV000358172 ; RCV000404456
• dbSNP Id: rs886062021
• gnomAD v4: 7-141653004-AAC-A
• MyVariant Identifiers: chr7:g.141352806_141352807del (hg19) ; chr7:g.141352805_141352806del (hg19) ; chr7:g.141653006_141653007del (hg38) ; chr7:g.141653005_141653006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141653006_141653007del , CM000669.2:g.141653006_141653007del	GRCh38
NC_000007.13:g.141352806_141352807del , CM000669.1:g.141352806_141352807del	GRCh37
NC_000007.12:g.140999275_140999276del	NCBI36
NG_032079.1:g.106729_106730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647568.1:c.*1314_*1315del (AGK)	ENSP00000497039.1:n.*1314_*1315del
ENST00000648068.1:c.*82_*83del (AGK)	ENSP00000498112.1:n.*82_*83del
ENST00000648395.1:c.*82_*83del (AGK)	ENSP00000497666.1:n.*82_*83del
ENST00000649014.1:c.*1803_*1804del (AGK)	ENSP00000497984.1:n.*1803_*1804del
ENST00000649286.2:c.*82_*83del (AGK) MANE Select	ENSP00000497280.1:n.*82_*83del
ENST00000649365.1:c.*2536_*2537del (AGK)	ENSP00000496835.1:n.*2536_*2537del
ENST00000649790.1:c.*787_*788del (AGK)	ENSP00000498193.1:n.*787_*788del
ENST00000649914.1:c.*82_*83del (AGK)	ENSP00000497848.1:n.*82_*83del
ENST00000650547.1:c.*82_*83del (AGK)	ENSP00000496789.1:n.*82_*83del
ENST00000355413.8:c.*82_*83del (AGK)	ENSP00000347581.4:n.*82_*83del
ENST00000473247.5:c.*82_*83del (AGK)	ENSP00000420776.1:n.*82_*83del
ENST00000494053.1:n.508_509del (AGK)
ENST00000629555.2:c.*456_*457del (AGK)	ENSP00000487274.1:n.*456_*457del
NM_018238.3:c.*82_*83del (AGK)	NP_060708.1:n.*82_*83del
XM_011516397.1:c.*82_*83del (AGK)	XP_011514699.1:n.*82_*83del
NM_018238.4:c.*82_*83del (AGK) MANE Select	NP_060708.1:n.*82_*83del
XM_011516397.3:c.*82_*83del (AGK)	XP_011514699.1:n.*82_*83del
XM_024446835.1:c.*82_*83del (AGK)	XP_024302603.1:n.*82_*83del
XR_001744838.1:n.7516-123_7516-122del (DENND11)