Canonical Allele Identifier: CA2582341926
Community Standard Title: NM_001368809.2(AMPD2):c.2173_2175del (p.Glu725del)
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109630698_109630700del , CM000663.2:g.109630698_109630700del GRCh38
NC_000001.10:g.110173320_110173322del , CM000663.1:g.110173320_110173322del GRCh37
NC_000001.9:g.109974843_109974845del NCBI36
NG_034075.1:g.15886_15888del

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.2173_2175del MANE Select NP_001355738.1:p.Glu725del
ENST00000528667.7:c.2173_2175del MANE Select ENSP00000436541.2:p.Glu725del
NM_001257360.1:c.2335_2337del NP_001244289.1:p.Glu779del
NM_001257360.2:c.2335_2337del NP_001244289.1:p.Glu779del
NM_001257361.1:c.1981_1983del NP_001244290.1:p.Glu661del
NM_001257361.2:c.1981_1983del NP_001244290.1:p.Glu661del
NM_001308170.1:c.2110_2112del NP_001295099.1:p.Glu704del
NM_004037.7:c.2335_2337del NP_004028.3:p.Glu779del
NM_004037.9:c.2173_2175del NP_004028.4:p.Glu725del
NM_139156.3:c.2092_2094del NP_631895.1:p.Glu698del
NM_139156.4:c.2092_2094del NP_631895.1:p.Glu698del
NM_203404.1:c.1978_1980del NP_981949.1:p.Glu660del
ENST00000256578.7:c.2335_2337del ENSP00000256578.3:p.Glu779del
ENST00000256578.8:c.2173_2175del ENSP00000256578.4:p.Glu725del
ENST00000342115.8:c.2092_2094del ENSP00000345498.4:p.Glu698del
ENST00000358729.8:c.2110_2112del ENSP00000351573.4:p.Glu704del
ENST00000358729.9:c.2158-245_2158-243del ENSP00000351573.5:n.2158-245_2158-243del
ENST00000369840.6:c.2279_2281del
ENST00000369840.7:c.2206_2208del ENSP00000358855.3:p.Glu736del
ENST00000393688.7:c.1978_1980del ENSP00000377292.3:p.Glu660del
ENST00000474459.6:n.2792_2794del
ENST00000476688.2:c.486-245_486-243del
ENST00000476688.3:c.1855_1857del ENSP00000437025.2:p.Glu619del
ENST00000479919.1:n.497_499del
ENST00000486282.7:n.3427_3429del
ENST00000524975.2:n.2956_2958del
ENST00000525415.2:n.2685_2687del
ENST00000526301.6:n.2236_2238del
ENST00000527846.7:n.2028_2030del
ENST00000528454.5:c.1981_1983del ENSP00000437164.1:p.Glu661del
ENST00000528667.5:c.2335_2337del ENSP00000436541.1:p.Glu779del
ENST00000528958.1:n.61_63del
ENST00000531203.6:c.1981_1983del ENSP00000431975.2:p.Glu661del
ENST00000531734.6:c.2092_2094del ENSP00000433739.2:p.Glu698del
ENST00000652975.2:c.*1804_*1806del ENSP00000499620.2:n.*1804_*1806del
ENST00000654851.1:n.2015_2017del
ENST00000659122.2:c.2009_2011del ENSP00000499621.2:n.2009_2011del
ENST00000663749.1:c.*1799_*1801del ENSP00000499739.1:n.*1799_*1801del
ENST00000667949.2:c.1573_1575del ENSP00000499465.2:p.Glu525del
ENST00000668421.1:c.*2114_*2116del ENSP00000499362.1:n.*2114_*2116del
ENST00000679379.1:c.*1925_*1927del ENSP00000505528.1:n.*1925_*1927del
ENST00000679593.1:c.*282_*284del ENSP00000505999.1:n.*282_*284del
ENST00000679880.1:n.2709_2711del
ENST00000679892.1:c.*1941_*1943del ENSP00000504882.1:n.*1941_*1943del
ENST00000679981.1:c.*2187_*2189del ENSP00000506422.1:n.*2187_*2189del
ENST00000680132.1:c.*2123_*2125del ENSP00000505950.1:n.*2123_*2125del
ENST00000680148.1:c.*1921_*1923del ENSP00000505994.1:n.*1921_*1923del
ENST00000680170.1:n.3038_3040del
ENST00000680192.1:n.3433_3435del
ENST00000680519.1:n.2409_2411del
ENST00000680531.1:c.*1920_*1922del ENSP00000506332.1:n.*1920_*1922del
ENST00000680820.1:c.*2227_*2229del ENSP00000505735.1:n.*2227_*2229del
ENST00000680832.1:c.*2273_*2275del ENSP00000505774.1:n.*2273_*2275del
ENST00000680929.1:c.*1862_*1864del ENSP00000504916.1:n.*1862_*1864del
ENST00000681108.1:c.*1847_*1849del ENSP00000506701.1:n.*1847_*1849del
ENST00000681121.1:c.*1283_*1285del ENSP00000506466.1:n.*1283_*1285del
ENST00000681132.1:c.*1939_*1941del ENSP00000506195.1:n.*1939_*1941del
ENST00000681181.1:c.*2460_*2462del ENSP00000506038.1:n.*2460_*2462del
ENST00000681218.1:c.*2442_*2444del ENSP00000505976.1:n.*2442_*2444del
ENST00000681246.1:c.*1829_*1831del ENSP00000505534.1:n.*1829_*1831del
ENST00000681496.1:c.*2446_*2448del ENSP00000505948.1:n.*2446_*2448del
ENST00000681834.1:n.2817_2819del
ENST00000681862.1:c.*2299_*2301del ENSP00000505537.1:n.*2299_*2301del
XM_011541247.1:c.2548_2550del XP_011539549.1:p.Glu850del
XM_024446431.1:c.2110_2112del XP_024302199.1:p.Glu704del
XM_024446432.1:c.2032_2034del XP_024302200.1:p.Glu678del
XR_002956282.1:n.2625_2627del
XR_946607.1:n.2450_2452del