Canonical Allele Identifier: CA2840542477
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109628635_109628638del , CM000663.2:g.109628635_109628638del GRCh38
NC_000001.10:g.110171257_110171260del , CM000663.1:g.110171257_110171260del GRCh37
NC_000001.9:g.109972780_109972783del NCBI36
NG_034075.1:g.13823_13826del

Transcript Alleles

HGVS Amino-acid Change
ENST00000256578.8:c.1408-8_1408-5del ENSP00000256578.4:n.1408-8_1408-5del
ENST00000358729.9:c.1408-8_1408-5del ENSP00000351573.5:n.1408-8_1408-5del
ENST00000369840.7:c.1408-8_1408-5del ENSP00000358855.3:n.1408-8_1408-5del
ENST00000474459.6:n.2027-8_2027-5del
ENST00000476688.3:c.1090-8_1090-5del ENSP00000437025.2:n.1090-8_1090-5del
ENST00000486282.7:n.2356_2359del
ENST00000524975.2:n.1881_1884del
ENST00000525415.2:n.1924-8_1924-5del
ENST00000526301.6:n.1471-8_1471-5del
ENST00000527846.7:n.1263-8_1263-5del
ENST00000528667.7:c.1408-8_1408-5del MANE Select ENSP00000436541.2:n.1408-8_1408-5del
ENST00000531203.6:c.1216-8_1216-5del ENSP00000431975.2:n.1216-8_1216-5del
ENST00000531734.6:c.1327-8_1327-5del ENSP00000433739.2:n.1327-8_1327-5del
ENST00000652975.2:c.*1160-8_*1160-5del ENSP00000499620.2:n.*1160-8_*1160-5del
ENST00000654851.1:n.1250-8_1250-5del
ENST00000655992.1:c.1216-8_1216-5del ENSP00000499740.1:n.1216-8_1216-5del
ENST00000659122.2:c.1407+140_1407+143del ENSP00000499621.2:n.1407+140_1407+143del
ENST00000663749.1:c.*1155-8_*1155-5del ENSP00000499739.1:n.*1155-8_*1155-5del
ENST00000667949.2:c.808-8_808-5del ENSP00000499465.2:n.808-8_808-5del
ENST00000668421.1:c.*1349-8_*1349-5del ENSP00000499362.1:n.*1349-8_*1349-5del
ENST00000679379.1:c.*1160-8_*1160-5del ENSP00000505528.1:n.*1160-8_*1160-5del
ENST00000679593.1:c.1408-8_1408-5del ENSP00000505999.1:n.1408-8_1408-5del
ENST00000679880.1:n.1936_1939del
ENST00000679892.1:c.*1176-8_*1176-5del ENSP00000504882.1:n.*1176-8_*1176-5del
ENST00000679981.1:c.*1422-8_*1422-5del ENSP00000506422.1:n.*1422-8_*1422-5del
ENST00000680132.1:c.*1358-8_*1358-5del ENSP00000505950.1:n.*1358-8_*1358-5del
ENST00000680148.1:c.*1160-8_*1160-5del ENSP00000505994.1:n.*1160-8_*1160-5del
ENST00000680170.1:n.2265_2268del
ENST00000680192.1:n.2358_2361del
ENST00000680519.1:n.1644-8_1644-5del
ENST00000680531.1:c.*1155-8_*1155-5del ENSP00000506332.1:n.*1155-8_*1155-5del
ENST00000680820.1:c.*1160-8_*1160-5del ENSP00000505735.1:n.*1160-8_*1160-5del
ENST00000680832.1:c.*1508-8_*1508-5del ENSP00000505774.1:n.*1508-8_*1508-5del
ENST00000680929.1:c.*1097-8_*1097-5del ENSP00000504916.1:n.*1097-8_*1097-5del
ENST00000681108.1:c.*1245+140_*1245+143del ENSP00000506701.1:n.*1245+140_*1245+143del
ENST00000681121.1:c.*518-8_*518-5del ENSP00000506466.1:n.*518-8_*518-5del
ENST00000681132.1:c.*1174-8_*1174-5del ENSP00000506195.1:n.*1174-8_*1174-5del
ENST00000681181.1:c.*1385_*1388del ENSP00000506038.1:n.*1385_*1388del
ENST00000681218.1:c.*1673_*1676del ENSP00000505976.1:n.*1673_*1676del
ENST00000681246.1:c.*1064-8_*1064-5del ENSP00000505534.1:n.*1064-8_*1064-5del
ENST00000681496.1:c.*1673_*1676del ENSP00000505948.1:n.*1673_*1676del
ENST00000681834.1:n.1747-8_1747-5del
ENST00000681862.1:c.*1534-8_*1534-5del ENSP00000505537.1:n.*1534-8_*1534-5del
ENST00000256578.7:c.1570-8_1570-5del ENSP00000256578.3:n.1570-8_1570-5del
ENST00000342115.8:c.1327-8_1327-5del ENSP00000345498.4:n.1327-8_1327-5del
ENST00000358729.8:c.1345-8_1345-5del ENSP00000351573.4:n.1345-8_1345-5del
ENST00000369840.6:c.1481-8_1481-5del
ENST00000393688.7:c.1213-8_1213-5del ENSP00000377292.3:n.1213-8_1213-5del
ENST00000526301.5:n.1609-8_1609-5del
ENST00000528454.5:c.1216-8_1216-5del ENSP00000437164.1:n.1216-8_1216-5del
ENST00000528667.5:c.1570-8_1570-5del ENSP00000436541.1:n.1570-8_1570-5del
ENST00000532851.1:n.118-8_118-5del
ENST00000533132.1:n.102_105del
NM_001257360.1:c.1570-8_1570-5del NP_001244289.1:n.1570-8_1570-5del
NM_001257361.1:c.1216-8_1216-5del NP_001244290.1:n.1216-8_1216-5del
NM_001308170.1:c.1345-8_1345-5del NP_001295099.1:n.1345-8_1345-5del
NM_004037.7:c.1570-8_1570-5del NP_004028.3:n.1570-8_1570-5del
NM_139156.3:c.1327-8_1327-5del NP_631895.1:n.1327-8_1327-5del
NM_203404.1:c.1213-8_1213-5del NP_981949.1:n.1213-8_1213-5del
XM_011541247.1:c.1783-8_1783-5del XP_011539549.1:n.1783-8_1783-5del
XM_011541248.1:c.1782+140_1782+143del XP_011539550.1:n.1782+140_1782+143del
XR_946607.1:n.1806-8_1806-5del
XM_024446431.1:c.1345-8_1345-5del XP_024302199.1:n.1345-8_1345-5del
XM_024446432.1:c.1430+140_1430+143del XP_024302200.1:n.1430+140_1430+143del
XR_002956282.1:n.1981-8_1981-5del
NM_001257360.2:c.1570-8_1570-5del NP_001244289.1:n.1570-8_1570-5del
NM_001368809.2:c.1408-8_1408-5del MANE Select NP_001355738.1:n.1408-8_1408-5del
NM_004037.9:c.1408-8_1408-5del NP_004028.4:n.1408-8_1408-5del
NM_001257361.2:c.1216-8_1216-5del NP_001244290.1:n.1216-8_1216-5del
NM_139156.4:c.1327-8_1327-5del NP_631895.1:n.1327-8_1327-5del