Canonical Allele Identifier: CA885384059
Community Standard Title: NM_001368809.2(AMPD2):c.520_522del (p.Glu174del)
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109626416_109626418del , CM000663.2:g.109626416_109626418del GRCh38
NC_000001.10:g.110169038_110169040del , CM000663.1:g.110169038_110169040del GRCh37
NC_000001.9:g.109970561_109970563del NCBI36
NG_034075.1:g.11604_11606del

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.520_522del MANE Select NP_001355738.1:p.Glu174del
ENST00000528667.7:c.520_522del MANE Select ENSP00000436541.2:p.Glu174del
NM_001257360.1:c.682_684del NP_001244289.1:p.Glu228del
NM_001257360.2:c.682_684del NP_001244289.1:p.Glu228del
NM_001257361.1:c.328_330del NP_001244290.1:p.Glu110del
NM_001257361.2:c.328_330del NP_001244290.1:p.Glu110del
NM_001308170.1:c.457_459del NP_001295099.1:p.Glu153del
NM_004037.7:c.682_684del NP_004028.3:p.Glu228del
NM_004037.9:c.520_522del NP_004028.4:p.Glu174del
NM_139156.3:c.439_441del NP_631895.1:p.Glu147del
NM_139156.4:c.439_441del NP_631895.1:p.Glu147del
NM_203404.1:c.325_327del NP_981949.1:p.Glu109del
ENST00000256578.7:c.682_684del ENSP00000256578.3:p.Glu228del
ENST00000256578.8:c.520_522del ENSP00000256578.4:p.Glu174del
ENST00000342115.8:c.439_441del ENSP00000345498.4:p.Glu147del
ENST00000358729.8:c.457_459del ENSP00000351573.4:p.Glu153del
ENST00000358729.9:c.520_522del ENSP00000351573.5:p.Glu174del
ENST00000369840.6:c.593_595del
ENST00000369840.7:c.520_522del ENSP00000358855.3:p.Glu174del
ENST00000393688.7:c.325_327del ENSP00000377292.3:p.Glu109del
ENST00000474459.5:c.-81_-79del ENSP00000432344.1:n.-81_-79del
ENST00000474459.6:n.877_879del
ENST00000476688.3:c.202_204del ENSP00000437025.2:p.Glu68del
ENST00000486282.6:n.540_542del
ENST00000486282.7:n.571_573del
ENST00000524975.2:n.480_482del
ENST00000525415.1:n.129_131del
ENST00000525415.2:n.778_780del
ENST00000526301.5:n.721_723del
ENST00000526301.6:n.583_585del
ENST00000527846.5:c.583_585del ENSP00000431904.1:p.Glu195del
ENST00000527846.7:n.375_377del
ENST00000528454.5:c.328_330del ENSP00000437164.1:p.Glu110del
ENST00000528667.5:c.682_684del ENSP00000436541.1:p.Glu228del
ENST00000531203.6:c.328_330del ENSP00000431975.2:p.Glu110del
ENST00000531734.6:c.439_441del ENSP00000433739.2:p.Glu147del
ENST00000534144.1:n.346_348del
ENST00000652975.2:c.*272_*274del ENSP00000499620.2:n.*272_*274del
ENST00000654851.1:n.362_364del
ENST00000655992.1:c.328_330del ENSP00000499740.1:p.Glu110del
ENST00000659122.2:c.520_522del ENSP00000499621.2:p.Glu174del
ENST00000663749.1:c.*272_*274del ENSP00000499739.1:n.*272_*274del
ENST00000667949.2:c.-81_-79del ENSP00000499465.2:n.-81_-79del
ENST00000668421.1:c.*461_*463del ENSP00000499362.1:n.*461_*463del
ENST00000679379.1:c.*272_*274del ENSP00000505528.1:n.*272_*274del
ENST00000679593.1:c.520_522del ENSP00000505999.1:p.Glu174del
ENST00000679880.1:n.778_780del
ENST00000679892.1:c.*272_*274del ENSP00000504882.1:n.*272_*274del
ENST00000679981.1:c.*272_*274del ENSP00000506422.1:n.*272_*274del
ENST00000680132.1:c.*272_*274del ENSP00000505950.1:n.*272_*274del
ENST00000680148.1:c.*272_*274del ENSP00000505994.1:n.*272_*274del
ENST00000680170.1:n.778_780del
ENST00000680192.1:n.871_873del
ENST00000680519.1:n.740_742del
ENST00000680531.1:c.*272_*274del ENSP00000506332.1:n.*272_*274del
ENST00000680820.1:c.*272_*274del ENSP00000505735.1:n.*272_*274del
ENST00000680832.1:c.*272_*274del ENSP00000505774.1:n.*272_*274del
ENST00000680929.1:c.*272_*274del ENSP00000504916.1:n.*272_*274del
ENST00000681108.1:c.*272_*274del ENSP00000506701.1:n.*272_*274del
ENST00000681121.1:c.328_330del ENSP00000506466.1:p.Glu110del
ENST00000681132.1:c.*272_*274del ENSP00000506195.1:n.*272_*274del
ENST00000681181.1:c.*272_*274del ENSP00000506038.1:n.*272_*274del
ENST00000681218.1:c.*272_*274del ENSP00000505976.1:n.*272_*274del
ENST00000681246.1:c.*176_*178del ENSP00000505534.1:n.*176_*178del
ENST00000681496.1:c.*272_*274del ENSP00000505948.1:n.*272_*274del
ENST00000681834.1:n.597_599del
ENST00000681862.1:c.*272_*274del ENSP00000505537.1:n.*272_*274del
XM_011541247.1:c.895_897del XP_011539549.1:p.Glu299del
XM_011541248.1:c.895_897del XP_011539550.1:p.Glu299del
XM_024446431.1:c.457_459del XP_024302199.1:p.Glu153del
XM_024446432.1:c.457_459del XP_024302200.1:p.Glu153del
XR_002956282.1:n.1093_1095del
XR_946607.1:n.918_920del