Canonical Allele Identifier: CA2839308831
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109628626_109628627del , CM000663.2:g.109628626_109628627del GRCh38
NC_000001.10:g.110171248_110171249del , CM000663.1:g.110171248_110171249del GRCh37
NC_000001.9:g.109972771_109972772del NCBI36
NG_034075.1:g.13814_13815del

Transcript Alleles

HGVS Amino-acid Change
ENST00000256578.8:c.1408-17_1408-16del ENSP00000256578.4:n.1408-17_1408-16del
ENST00000358729.9:c.1408-17_1408-16del ENSP00000351573.5:n.1408-17_1408-16del
ENST00000369840.7:c.1408-17_1408-16del ENSP00000358855.3:n.1408-17_1408-16del
ENST00000474459.6:n.2027-17_2027-16del
ENST00000476688.3:c.1090-17_1090-16del ENSP00000437025.2:n.1090-17_1090-16del
ENST00000486282.7:n.2347_2348del
ENST00000524975.2:n.1872_1873del
ENST00000525415.2:n.1924-17_1924-16del
ENST00000526301.6:n.1471-17_1471-16del
ENST00000527846.7:n.1263-17_1263-16del
ENST00000528667.7:c.1408-17_1408-16del MANE Select ENSP00000436541.2:n.1408-17_1408-16del
ENST00000531203.6:c.1216-17_1216-16del ENSP00000431975.2:n.1216-17_1216-16del
ENST00000531734.6:c.1327-17_1327-16del ENSP00000433739.2:n.1327-17_1327-16del
ENST00000652975.2:c.*1160-17_*1160-16del ENSP00000499620.2:n.*1160-17_*1160-16del
ENST00000654851.1:n.1250-17_1250-16del
ENST00000655992.1:c.1216-17_1216-16del ENSP00000499740.1:n.1216-17_1216-16del
ENST00000659122.2:c.1407+131_1407+132del ENSP00000499621.2:n.1407+131_1407+132del
ENST00000663749.1:c.*1155-17_*1155-16del ENSP00000499739.1:n.*1155-17_*1155-16del
ENST00000667949.2:c.808-17_808-16del ENSP00000499465.2:n.808-17_808-16del
ENST00000668421.1:c.*1349-17_*1349-16del ENSP00000499362.1:n.*1349-17_*1349-16del
ENST00000679379.1:c.*1160-17_*1160-16del ENSP00000505528.1:n.*1160-17_*1160-16del
ENST00000679593.1:c.1408-17_1408-16del ENSP00000505999.1:n.1408-17_1408-16del
ENST00000679880.1:n.1928-1_1928del
ENST00000679892.1:c.*1176-17_*1176-16del ENSP00000504882.1:n.*1176-17_*1176-16del
ENST00000679981.1:c.*1422-17_*1422-16del ENSP00000506422.1:n.*1422-17_*1422-16del
ENST00000680132.1:c.*1358-17_*1358-16del ENSP00000505950.1:n.*1358-17_*1358-16del
ENST00000680148.1:c.*1160-17_*1160-16del ENSP00000505994.1:n.*1160-17_*1160-16del
ENST00000680170.1:n.2256_2257del
ENST00000680192.1:n.2349_2350del
ENST00000680519.1:n.1644-17_1644-16del
ENST00000680531.1:c.*1155-17_*1155-16del ENSP00000506332.1:n.*1155-17_*1155-16del
ENST00000680820.1:c.*1160-17_*1160-16del ENSP00000505735.1:n.*1160-17_*1160-16del
ENST00000680832.1:c.*1508-17_*1508-16del ENSP00000505774.1:n.*1508-17_*1508-16del
ENST00000680929.1:c.*1097-17_*1097-16del ENSP00000504916.1:n.*1097-17_*1097-16del
ENST00000681108.1:c.*1245+131_*1245+132del ENSP00000506701.1:n.*1245+131_*1245+132del
ENST00000681121.1:c.*518-17_*518-16del ENSP00000506466.1:n.*518-17_*518-16del
ENST00000681132.1:c.*1174-17_*1174-16del ENSP00000506195.1:n.*1174-17_*1174-16del
ENST00000681181.1:c.*1376_*1377del ENSP00000506038.1:n.*1376_*1377del
ENST00000681218.1:c.*1664_*1665del ENSP00000505976.1:n.*1664_*1665del
ENST00000681246.1:c.*1064-17_*1064-16del ENSP00000505534.1:n.*1064-17_*1064-16del
ENST00000681496.1:c.*1664_*1665del ENSP00000505948.1:n.*1664_*1665del
ENST00000681834.1:n.1747-17_1747-16del
ENST00000681862.1:c.*1534-17_*1534-16del ENSP00000505537.1:n.*1534-17_*1534-16del
ENST00000256578.7:c.1570-17_1570-16del ENSP00000256578.3:n.1570-17_1570-16del
ENST00000342115.8:c.1327-17_1327-16del ENSP00000345498.4:n.1327-17_1327-16del
ENST00000358729.8:c.1345-17_1345-16del ENSP00000351573.4:n.1345-17_1345-16del
ENST00000369840.6:c.1481-17_1481-16del
ENST00000393688.7:c.1213-17_1213-16del ENSP00000377292.3:n.1213-17_1213-16del
ENST00000526301.5:n.1609-17_1609-16del
ENST00000528454.5:c.1216-17_1216-16del ENSP00000437164.1:n.1216-17_1216-16del
ENST00000528667.5:c.1570-17_1570-16del ENSP00000436541.1:n.1570-17_1570-16del
ENST00000532851.1:n.118-17_118-16del
ENST00000533132.1:n.93_94del
NM_001257360.1:c.1570-17_1570-16del NP_001244289.1:n.1570-17_1570-16del
NM_001257361.1:c.1216-17_1216-16del NP_001244290.1:n.1216-17_1216-16del
NM_001308170.1:c.1345-17_1345-16del NP_001295099.1:n.1345-17_1345-16del
NM_004037.7:c.1570-17_1570-16del NP_004028.3:n.1570-17_1570-16del
NM_139156.3:c.1327-17_1327-16del NP_631895.1:n.1327-17_1327-16del
NM_203404.1:c.1213-17_1213-16del NP_981949.1:n.1213-17_1213-16del
XM_011541247.1:c.1783-17_1783-16del XP_011539549.1:n.1783-17_1783-16del
XM_011541248.1:c.1782+131_1782+132del XP_011539550.1:n.1782+131_1782+132del
XR_946607.1:n.1806-17_1806-16del
XM_024446431.1:c.1345-17_1345-16del XP_024302199.1:n.1345-17_1345-16del
XM_024446432.1:c.1430+131_1430+132del XP_024302200.1:n.1430+131_1430+132del
XR_002956282.1:n.1981-17_1981-16del
NM_001257360.2:c.1570-17_1570-16del NP_001244289.1:n.1570-17_1570-16del
NM_001368809.2:c.1408-17_1408-16del MANE Select NP_001355738.1:n.1408-17_1408-16del
NM_004037.9:c.1408-17_1408-16del NP_004028.4:n.1408-17_1408-16del
NM_001257361.2:c.1216-17_1216-16del NP_001244290.1:n.1216-17_1216-16del
NM_139156.4:c.1327-17_1327-16del NP_631895.1:n.1327-17_1327-16del