Canonical Allele Identifier: CA1104444511

Gene: AKAP9

Linked Data

• gnomAD v3: 7-92040678-A-ATTTTTTTTT
• gnomAD v4: 7-92040678-A-ATTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92040679_92040680insTTTTTTTTT , CM000669.2:g.92040679_92040680insTTTTTTTTT	GRCh38
NC_000007.13:g.91669993_91669994insTTTTTTTTT , CM000669.1:g.91669993_91669994insTTTTTTTTT	GRCh37
NC_000007.12:g.91507929_91507930insTTTTTTTTT	NCBI36
NG_011623.1:g.104805_104806insTTTTTTTTT , LRG_331:g.104805_104806insTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356239.8:c.4698_4699insTTTTTTTTT MANE Select	ENSP00000348573.3:p.His1566_Asp1567insPhePhePhe
ENST00000359028.7:c.4698_4699insTTTTTTTTT	ENSP00000351922.4:p.His1566_Asp1567insPhePhePhe
ENST00000674381.2:c.*4427_*4428insTTTTTTTTT	ENSP00000501536.2:n.*4427_*4428insTTTTTTTTT
ENST00000679448.1:c.4698_4699insTTTTTTTTT	ENSP00000505889.1:p.His1566_Asp1567insPhePhePhe
ENST00000679457.1:c.4698_4699insTTTTTTTTT	ENSP00000505450.1:p.His1566_Asp1567insPhePhePhe
ENST00000679474.1:n.4920_4921insTTTTTTTTT
ENST00000679521.1:c.4644_4645insTTTTTTTTT	ENSP00000505456.1:p.His1548_Asp1549insPhePhePhe
ENST00000679554.1:c.*4483_*4484insTTTTTTTTT	ENSP00000506415.1:n.*4483_*4484insTTTTTTTTT
ENST00000679722.1:n.4920_4921insTTTTTTTTT
ENST00000679821.1:c.4440_4441insTTTTTTTTT	ENSP00000506040.1:p.His1480_Asp1481insPhePhePhe
ENST00000680047.1:n.4920_4921insTTTTTTTTT
ENST00000680072.1:c.4698_4699insTTTTTTTTT	ENSP00000506581.1:p.His1566_Asp1567insPhePhePhe
ENST00000680074.1:n.4920_4921insTTTTTTTTT
ENST00000680181.1:c.4605_4606insTTTTTTTTT	ENSP00000505548.1:p.His1535_Asp1536insPhePhePhe
ENST00000680513.1:c.4698_4699insTTTTTTTTT	ENSP00000505284.1:p.His1566_Asp1567insPhePhePhe
ENST00000680534.1:c.4698_4699insTTTTTTTTT	ENSP00000506674.1:p.His1566_Asp1567insPhePhePhe
ENST00000680766.1:c.4698_4699insTTTTTTTTT	ENSP00000505204.1:p.His1566_Asp1567insPhePhePhe
ENST00000680952.1:c.4698_4699insTTTTTTTTT	ENSP00000506407.1:p.His1566_Asp1567insPhePhePhe
ENST00000681412.1:c.4698_4699insTTTTTTTTT	ENSP00000506486.1:p.His1566_Asp1567insPhePhePhe
ENST00000681722.1:c.4698_4699insTTTTTTTTT	ENSP00000506566.1:p.His1566_Asp1567insPhePhePhe
ENST00000356239.7:c.4698_4699insTTTTTTTTT	ENSP00000348573.3:p.His1566_Asp1567insPhePhePhe
ENST00000358100.6:c.4698_4699insTTTTTTTTT	ENSP00000350813.3:p.His1566_Asp1567insPhePhePhe
ENST00000359028.6:c.4731_4732insTTTTTTTTT	ENSP00000351922.3:p.His1577_Asp1578insPhePhePhe
ENST00000493453.1:n.4918_4919insTTTTTTTTT
ENST00000619023.4:c.4722_4723insTTTTTTTTT	ENSP00000480807.1:p.His1574_Asp1575insPhePhePhe
NM_005751.4:c.4698_4699insTTTTTTTTT , LRG_331t1:c.4698_4699insTTTTTTTTT	NP_005742.4:p.His1566_Asp1567insPhePhePhe
NM_147185.2:c.4698_4699insTTTTTTTTT	NP_671714.1:p.His1566_Asp1567insPhePhePhe
XM_006715827.1:c.4698_4699insTTTTTTTTT	XP_006715890.1:p.His1566_Asp1567insPhePhePhe
XM_011515709.1:c.4734_4735insTTTTTTTTT	XP_011514011.1:p.His1578_Asp1579insPhePhePhe
XM_011515710.1:c.4734_4735insTTTTTTTTT	XP_011514012.1:p.His1578_Asp1579insPhePhePhe
XM_011515711.1:c.4698_4699insTTTTTTTTT	XP_011514013.1:p.His1566_Asp1567insPhePhePhe
XM_011515712.1:c.4734_4735insTTTTTTTTT	XP_011514014.1:p.His1578_Asp1579insPhePhePhe
XM_011515713.1:c.4680_4681insTTTTTTTTT	XP_011514015.1:p.His1560_Asp1561insPhePhePhe
XM_011515714.1:c.4734_4735insTTTTTTTTT	XP_011514016.1:p.His1578_Asp1579insPhePhePhe
XM_011515716.1:c.4734_4735insTTTTTTTTT	XP_011514018.1:p.His1578_Asp1579insPhePhePhe
XM_011515717.1:c.4734_4735insTTTTTTTTT	XP_011514019.1:p.His1578_Asp1579insPhePhePhe
XM_011515718.1:c.4734_4735insTTTTTTTTT	XP_011514020.1:p.His1578_Asp1579insPhePhePhe
XM_011515719.1:c.4734_4735insTTTTTTTTT	XP_011514021.1:p.His1578_Asp1579insPhePhePhe
XM_011515720.1:c.4734_4735insTTTTTTTTT	XP_011514022.1:p.His1578_Asp1579insPhePhePhe
XM_017011642.2:c.4698_4699insTTTTTTTTT	XP_016867131.1:p.His1566_Asp1567insPhePhePhe
XM_017011643.2:c.4698_4699insTTTTTTTTT	XP_016867132.1:p.His1566_Asp1567insPhePhePhe
XM_017011644.2:c.4698_4699insTTTTTTTTT	XP_016867133.1:p.His1566_Asp1567insPhePhePhe
XM_017011645.2:c.4644_4645insTTTTTTTTT	XP_016867134.1:p.His1548_Asp1549insPhePhePhe
XM_017011646.2:c.4698_4699insTTTTTTTTT	XP_016867135.1:p.His1566_Asp1567insPhePhePhe
XM_017011647.2:c.4605_4606insTTTTTTTTT	XP_016867136.1:p.His1535_Asp1536insPhePhePhe
XM_017011648.2:c.4698_4699insTTTTTTTTT	XP_016867137.1:p.His1566_Asp1567insPhePhePhe
XM_017011649.2:c.4698_4699insTTTTTTTTT	XP_016867138.1:p.His1566_Asp1567insPhePhePhe
XM_017011650.2:c.4698_4699insTTTTTTTTT	XP_016867139.1:p.His1566_Asp1567insPhePhePhe
XM_017011651.2:c.4698_4699insTTTTTTTTT	XP_016867140.1:p.His1566_Asp1567insPhePhePhe
XM_017011652.2:c.4698_4699insTTTTTTTTT	XP_016867141.1:p.His1566_Asp1567insPhePhePhe
XM_017011653.2:c.4605_4606insTTTTTTTTT	XP_016867142.1:p.His1535_Asp1536insPhePhePhe
XM_017011654.2:c.4698_4699insTTTTTTTTT	XP_016867143.1:p.His1566_Asp1567insPhePhePhe
XM_017011655.2:c.4326_4327insTTTTTTTTT	XP_016867144.1:p.His1442_Asp1443insPhePhePhe
XM_017011656.2:c.4326_4327insTTTTTTTTT	XP_016867145.1:p.His1442_Asp1443insPhePhePhe
XM_017011657.2:c.363_364insTTTTTTTTT	XP_016867146.1:p.His121_Asp122insPhePhePhe
XM_024446631.1:c.4698_4699insTTTTTTTTT	XP_024302399.1:p.His1566_Asp1567insPhePhePhe
NM_147185.3:c.4698_4699insTTTTTTTTT	NP_671714.1:p.His1566_Asp1567insPhePhePhe
NM_005751.5:c.4698_4699insTTTTTTTTT MANE Select	NP_005742.4:p.His1566_Asp1567insPhePhePhe