Canonical Allele Identifier: CA2575487992

Gene: AP1G2 AP1G2-AS1

Linked Data

• gnomAD v4: 14-23563790-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23563791del , CM000676.2:g.23563791del	GRCh38
NC_000014.8:g.24033000del , CM000676.1:g.24033000del	GRCh37
NC_000014.7:g.23102840del	NCBI36
NG_011937.1:g.9280del

Transcript Alleles

HGVS	Amino-acid change
ENST00000397120.8:c.1157del (AP1G2) MANE Select	ENSP00000380309.3:p.Leu386ArgfsTer?
ENST00000308724.9:c.1157del (AP1G2)	ENSP00000312442.5:p.Leu386ArgfsTer?
ENST00000397120.7:c.1157del (AP1G2)	ENSP00000380309.3:p.Leu386ArgfsTer?
ENST00000460049.6:n.1330del (AP1G2)
ENST00000465445.6:n.1216del (AP1G2)
ENST00000535852.6:n.1097del (AP1G2)
ENST00000554554.5:n.159del (AP1G2)
ENST00000554977.1:n.474del (AP1G2)
ENST00000554982.5:n.63del (AP1G2)
ENST00000555118.1:n.1del (AP1G2)
ENST00000555789.5:n.106del (AP1G2)
ENST00000555974.1:n.112del (AP1G2)
ENST00000556741.5:n.116del (AP1G2)
ENST00000557162.1:c.306del (AP1G2)
NM_001282474.1:c.14del (AP1G2)	NP_001269403.1:p.Leu5ArgfsTer?
NM_001282475.1:c.941del (AP1G2)	NP_001269404.1:p.Leu314ArgfsTer?
NM_003917.4:c.1157del (AP1G2)	NP_003908.1:p.Leu386ArgfsTer?
NR_110555.1:n.778-936del (AP1G2-AS1)
XM_005268167.2:c.1328del (AP1G2)	XP_005268224.1:p.Leu443ArgfsTer?
XM_005268168.3:c.1328del (AP1G2)	XP_005268225.1:p.Leu443ArgfsTer?
XM_005268169.2:c.1328del (AP1G2)	XP_005268226.1:p.Leu443ArgfsTer?
XM_005268170.2:c.1328del (AP1G2)	XP_005268227.1:p.Leu443ArgfsTer?
XM_005268172.2:c.1157del (AP1G2)	XP_005268229.1:p.Leu386ArgfsTer?
XM_005268173.2:c.1157del (AP1G2)	XP_005268230.1:p.Leu386ArgfsTer?
XM_005268174.2:c.941del (AP1G2)	XP_005268231.1:p.Leu314ArgfsTer?
XM_005268175.2:c.941del (AP1G2)	XP_005268232.1:p.Leu314ArgfsTer?
XM_005268177.2:c.770del (AP1G2)	XP_005268234.1:p.Leu257ArgfsTer?
XM_005268178.2:c.770del (AP1G2)	XP_005268235.1:p.Leu257ArgfsTer?
XM_005268179.2:c.770del (AP1G2)	XP_005268236.1:p.Leu257ArgfsTer?
XM_005268180.3:c.722del (AP1G2)	XP_005268237.1:p.Leu241ArgfsTer?
XM_005268181.2:c.1430del (AP1G2)	XP_005268238.1:p.Leu477ArgfsTer?
XM_005268182.2:c.527del (AP1G2)	XP_005268239.1:p.Leu176ArgfsTer?
XM_006720301.2:c.1328del (AP1G2)	XP_006720364.1:p.Leu443ArgfsTer?
XM_011537282.1:c.1328del (AP1G2)	XP_011535584.1:p.Leu443ArgfsTer?
XM_011537283.1:c.1328del (AP1G2)	XP_011535585.1:p.Leu443ArgfsTer?
XM_011537284.1:c.1430del (AP1G2)	XP_011535586.1:p.Leu477ArgfsTer?
XM_011537285.1:c.1430del (AP1G2)	XP_011535587.1:p.Leu477ArgfsTer?
XM_011537286.1:c.14del (AP1G2)	XP_011535588.1:p.Leu5ArgfsTer?
XR_943550.1:n.1329del (AP1G2)
XR_943551.1:n.1469del (AP1G2)
XR_943552.1:n.1469del (AP1G2)
XR_943553.1:n.1329del (AP1G2)
XR_943554.1:n.1580del (AP1G2)
XR_943555.1:n.1391del (AP1G2)
NM_001354673.1:c.770del (AP1G2)	NP_001341602.1:p.Leu257ArgfsTer?
NM_001354674.1:c.14del (AP1G2)	NP_001341603.1:p.Leu5ArgfsTer?
NM_001354675.1:c.14del (AP1G2)	NP_001341604.1:p.Leu5ArgfsTer?
NM_001354677.1:c.14del (AP1G2)	NP_001341606.1:p.Leu5ArgfsTer?
NM_001354681.1:c.14del (AP1G2)	NP_001341610.1:p.Leu5ArgfsTer?
NR_148937.1:n.1585del (AP1G2)
NR_148938.1:n.1386del (AP1G2)
XM_005268167.3:c.1328del (AP1G2)	XP_005268224.1:p.Leu443ArgfsTer?
XM_005268168.5:c.1328del (AP1G2)	XP_005268225.1:p.Leu443ArgfsTer?
XM_005268169.3:c.1328del (AP1G2)	XP_005268226.1:p.Leu443ArgfsTer?
XM_005268170.3:c.1328del (AP1G2)	XP_005268227.1:p.Leu443ArgfsTer?
XM_005268172.3:c.1157del (AP1G2)	XP_005268229.1:p.Leu386ArgfsTer?
XM_005268173.3:c.1157del (AP1G2)	XP_005268230.1:p.Leu386ArgfsTer?
XM_005268174.3:c.941del (AP1G2)	XP_005268231.1:p.Leu314ArgfsTer?
XM_005268175.3:c.941del (AP1G2)	XP_005268232.1:p.Leu314ArgfsTer?
XM_005268178.4:c.770del (AP1G2)	XP_005268235.1:p.Leu257ArgfsTer?
XM_005268179.3:c.770del (AP1G2)	XP_005268236.1:p.Leu257ArgfsTer?
XM_005268180.4:c.722del (AP1G2)	XP_005268237.1:p.Leu241ArgfsTer?
XM_005268182.3:c.527del (AP1G2)	XP_005268239.1:p.Leu176ArgfsTer?
XM_006720301.3:c.1328del (AP1G2)	XP_006720364.1:p.Leu443ArgfsTer?
XM_011537283.3:c.1328del (AP1G2)	XP_011535585.1:p.Leu443ArgfsTer?
XM_017021740.1:c.1328del (AP1G2)	XP_016877229.1:p.Leu443ArgfsTer?
XM_017021741.1:c.1187del (AP1G2)	XP_016877230.1:p.Leu396ArgfsTer?
XM_017021742.2:c.941del (AP1G2)	XP_016877231.1:p.Leu314ArgfsTer?
XM_017021745.1:c.1157del (AP1G2)	XP_016877234.1:p.Leu386ArgfsTer?
XM_024449738.1:c.14del (AP1G2)	XP_024305506.1:p.Leu5ArgfsTer?
XR_001750583.2:n.1329del (AP1G2)
XR_001750584.2:n.1329del (AP1G2)
XR_001750586.1:n.1329del (AP1G2)
XR_001750587.1:n.1329del (AP1G2)
XR_001750588.2:n.1782del (AP1G2)
XR_001750589.1:n.1580del (AP1G2)
XR_001750590.2:n.1391del (AP1G2)
XR_002957567.1:n.1329del (AP1G2)
XR_002957568.1:n.1298del (AP1G2)
XR_002957569.1:n.1212del (AP1G2)
XR_002957570.1:n.1580del (AP1G2)
NM_001282474.2:c.14del (AP1G2)	NP_001269403.1:p.Leu5ArgfsTer?
NM_001282475.2:c.941del (AP1G2)	NP_001269404.1:p.Leu314ArgfsTer?
NM_001354673.2:c.770del (AP1G2)	NP_001341602.1:p.Leu257ArgfsTer?
NM_001354674.2:c.14del (AP1G2)	NP_001341603.1:p.Leu5ArgfsTer?
NM_001354675.2:c.14del (AP1G2)	NP_001341604.1:p.Leu5ArgfsTer?
NM_001354677.2:c.14del (AP1G2)	NP_001341606.1:p.Leu5ArgfsTer?
NM_001354681.2:c.14del (AP1G2)	NP_001341610.1:p.Leu5ArgfsTer?
NM_003917.5:c.1157del (AP1G2) MANE Select	NP_003908.1:p.Leu386ArgfsTer?
NR_148937.2:n.1863del (AP1G2)
NR_148938.2:n.1389del (AP1G2)