Canonical Allele Identifier: CA2580060785

Gene: AMPD2

Linked Data

• ClinVar Variation Id: 2031731
• ClinVar RCV Id: RCV002898911

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628640_109628653del , CM000663.2:g.109628640_109628653del	GRCh38
NC_000001.10:g.110171262_110171275del , CM000663.1:g.110171262_110171275del	GRCh37
NC_000001.9:g.109972785_109972798del	NCBI36
NG_034075.1:g.13828_13841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1408-3_1418del
ENST00000358729.9:c.1408-3_1418del
ENST00000369840.7:c.1408-3_1418del
ENST00000474459.6:n.2027-3_2037del
ENST00000476688.3:c.1090-3_1100del
ENST00000486282.7:n.2361_2374del
ENST00000524975.2:n.1886_1899del
ENST00000525415.2:n.1924-3_1934del
ENST00000526301.6:n.1471-3_1481del
ENST00000527846.7:n.1263-3_1273del
ENST00000528667.7:c.1408-3_1418del
ENST00000531203.6:c.1216-3_1226del
ENST00000531734.6:c.1327-3_1337del
ENST00000652975.2:c.*1160-3_*1170del
ENST00000654851.1:n.1250-3_1260del
ENST00000655992.1:c.1216-3_1226del
ENST00000659122.2:c.1407+145_1407+158del	ENSP00000499621.2:n.1407+145_1407+158del
ENST00000663749.1:c.*1155-3_*1165del
ENST00000667949.2:c.808-3_818del
ENST00000668421.1:c.*1349-3_*1359del
ENST00000679379.1:c.*1160-3_*1170del
ENST00000679593.1:c.1408-3_1418del
ENST00000679880.1:n.1941_1954del
ENST00000679892.1:c.*1176-3_*1186del
ENST00000679981.1:c.*1422-3_*1432del
ENST00000680132.1:c.*1358-3_*1368del
ENST00000680148.1:c.*1160-3_*1170del
ENST00000680170.1:n.2270_2283del
ENST00000680192.1:n.2363_2376del
ENST00000680519.1:n.1644-3_1654del
ENST00000680531.1:c.*1155-3_*1165del
ENST00000680820.1:c.*1160-3_*1170del
ENST00000680832.1:c.*1508-3_*1518del
ENST00000680929.1:c.*1097-3_*1107del
ENST00000681108.1:c.*1245+145_*1245+158del	ENSP00000506701.1:n.*1245+145_*1245+158del
ENST00000681121.1:c.*518-3_*528del
ENST00000681132.1:c.*1174-3_*1184del
ENST00000681181.1:c.*1390_*1403del	ENSP00000506038.1:n.*1390_*1403del
ENST00000681218.1:c.*1678_*1691del	ENSP00000505976.1:n.*1678_*1691del
ENST00000681246.1:c.*1064-3_*1074del
ENST00000681496.1:c.*1678_*1691del	ENSP00000505948.1:n.*1678_*1691del
ENST00000681834.1:n.1747-3_1757del
ENST00000681862.1:c.*1534-3_*1544del
ENST00000256578.7:c.1570-3_1580del
ENST00000342115.8:c.1327-3_1337del
ENST00000358729.8:c.1345-3_1355del
ENST00000369840.6:c.1481-3_1491del
ENST00000393688.7:c.1213-3_1223del
ENST00000526301.5:n.1609-3_1619del
ENST00000528454.5:c.1216-3_1226del
ENST00000528667.5:c.1570-3_1580del
ENST00000532851.1:n.118-3_128del
ENST00000533132.1:n.107_120del
NM_001257360.1:c.1570-3_1580del
NM_001257361.1:c.1216-3_1226del
NM_001308170.1:c.1345-3_1355del
NM_004037.7:c.1570-3_1580del
NM_139156.3:c.1327-3_1337del
NM_203404.1:c.1213-3_1223del
XM_011541247.1:c.1783-3_1793del
XM_011541248.1:c.1782+145_1782+158del	XP_011539550.1:n.1782+145_1782+158del
XR_946607.1:n.1806-3_1816del
XM_024446431.1:c.1345-3_1355del
XM_024446432.1:c.1430+145_1430+158del	XP_024302200.1:n.1430+145_1430+158del
XR_002956282.1:n.1981-3_1991del
NM_001257360.2:c.1570-3_1580del
NM_001368809.2:c.1408-3_1418del
NM_004037.9:c.1408-3_1418del
NM_001257361.2:c.1216-3_1226del
NM_139156.4:c.1327-3_1337del