Canonical Allele Identifier: CA2646968711

Gene: AMPD2

Linked Data

• gnomAD v4: 1-109628595-C-CTCTGACTCAGCTCACCTCATG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628620_109628640dup , CM000663.2:g.109628620_109628640dup	GRCh38
NC_000001.10:g.110171242_110171262dup , CM000663.1:g.110171242_110171262dup	GRCh37
NC_000001.9:g.109972765_109972785dup	NCBI36
NG_034075.1:g.13808_13828dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1408-23_1408-3dup	ENSP00000256578.4:n.1408-23_1408-3dup
ENST00000358729.9:c.1408-23_1408-3dup	ENSP00000351573.5:n.1408-23_1408-3dup
ENST00000369840.7:c.1408-23_1408-3dup	ENSP00000358855.3:n.1408-23_1408-3dup
ENST00000474459.6:n.2027-23_2027-3dup
ENST00000476688.3:c.1090-23_1090-3dup	ENSP00000437025.2:n.1090-23_1090-3dup
ENST00000486282.7:n.2341_2361dup
ENST00000524975.2:n.1866_1886dup
ENST00000525415.2:n.1924-23_1924-3dup
ENST00000526301.6:n.1471-23_1471-3dup
ENST00000527846.7:n.1263-23_1263-3dup
ENST00000528667.7:c.1408-23_1408-3dup MANE Select	ENSP00000436541.2:n.1408-23_1408-3dup
ENST00000531203.6:c.1216-23_1216-3dup	ENSP00000431975.2:n.1216-23_1216-3dup
ENST00000531734.6:c.1327-23_1327-3dup	ENSP00000433739.2:n.1327-23_1327-3dup
ENST00000652975.2:c.*1160-23_*1160-3dup	ENSP00000499620.2:n.*1160-23_*1160-3dup
ENST00000654851.1:n.1250-23_1250-3dup
ENST00000655992.1:c.1216-23_1216-3dup	ENSP00000499740.1:n.1216-23_1216-3dup
ENST00000659122.2:c.1407+125_1407+145dup	ENSP00000499621.2:n.1407+125_1407+145dup
ENST00000663749.1:c.*1155-23_*1155-3dup	ENSP00000499739.1:n.*1155-23_*1155-3dup
ENST00000667949.2:c.808-23_808-3dup	ENSP00000499465.2:n.808-23_808-3dup
ENST00000668421.1:c.*1349-23_*1349-3dup	ENSP00000499362.1:n.*1349-23_*1349-3dup
ENST00000679379.1:c.*1160-23_*1160-3dup	ENSP00000505528.1:n.*1160-23_*1160-3dup
ENST00000679593.1:c.1408-23_1408-3dup	ENSP00000505999.1:n.1408-23_1408-3dup
ENST00000679880.1:n.1928-7_1941dup
ENST00000679892.1:c.*1176-23_*1176-3dup	ENSP00000504882.1:n.*1176-23_*1176-3dup
ENST00000679981.1:c.*1422-23_*1422-3dup	ENSP00000506422.1:n.*1422-23_*1422-3dup
ENST00000680132.1:c.*1358-23_*1358-3dup	ENSP00000505950.1:n.*1358-23_*1358-3dup
ENST00000680148.1:c.*1160-23_*1160-3dup	ENSP00000505994.1:n.*1160-23_*1160-3dup
ENST00000680170.1:n.2250_2270dup
ENST00000680192.1:n.2343_2363dup
ENST00000680519.1:n.1644-23_1644-3dup
ENST00000680531.1:c.*1155-23_*1155-3dup	ENSP00000506332.1:n.*1155-23_*1155-3dup
ENST00000680820.1:c.*1160-23_*1160-3dup	ENSP00000505735.1:n.*1160-23_*1160-3dup
ENST00000680832.1:c.*1508-23_*1508-3dup	ENSP00000505774.1:n.*1508-23_*1508-3dup
ENST00000680929.1:c.*1097-23_*1097-3dup	ENSP00000504916.1:n.*1097-23_*1097-3dup
ENST00000681108.1:c.*1245+125_*1245+145dup	ENSP00000506701.1:n.*1245+125_*1245+145dup
ENST00000681121.1:c.*518-23_*518-3dup	ENSP00000506466.1:n.*518-23_*518-3dup
ENST00000681132.1:c.*1174-23_*1174-3dup	ENSP00000506195.1:n.*1174-23_*1174-3dup
ENST00000681181.1:c.*1370_*1390dup	ENSP00000506038.1:n.*1370_*1390dup
ENST00000681218.1:c.*1658_*1678dup	ENSP00000505976.1:n.*1658_*1678dup
ENST00000681246.1:c.*1064-23_*1064-3dup	ENSP00000505534.1:n.*1064-23_*1064-3dup
ENST00000681496.1:c.*1658_*1678dup	ENSP00000505948.1:n.*1658_*1678dup
ENST00000681834.1:n.1747-23_1747-3dup
ENST00000681862.1:c.*1534-23_*1534-3dup	ENSP00000505537.1:n.*1534-23_*1534-3dup
ENST00000256578.7:c.1570-23_1570-3dup	ENSP00000256578.3:n.1570-23_1570-3dup
ENST00000342115.8:c.1327-23_1327-3dup	ENSP00000345498.4:n.1327-23_1327-3dup
ENST00000358729.8:c.1345-23_1345-3dup	ENSP00000351573.4:n.1345-23_1345-3dup
ENST00000369840.6:c.1481-23_1481-3dup
ENST00000393688.7:c.1213-23_1213-3dup	ENSP00000377292.3:n.1213-23_1213-3dup
ENST00000526301.5:n.1609-23_1609-3dup
ENST00000528454.5:c.1216-23_1216-3dup	ENSP00000437164.1:n.1216-23_1216-3dup
ENST00000528667.5:c.1570-23_1570-3dup	ENSP00000436541.1:n.1570-23_1570-3dup
ENST00000532851.1:n.118-23_118-3dup
ENST00000533132.1:n.87_107dup
NM_001257360.1:c.1570-23_1570-3dup	NP_001244289.1:n.1570-23_1570-3dup
NM_001257361.1:c.1216-23_1216-3dup	NP_001244290.1:n.1216-23_1216-3dup
NM_001308170.1:c.1345-23_1345-3dup	NP_001295099.1:n.1345-23_1345-3dup
NM_004037.7:c.1570-23_1570-3dup	NP_004028.3:n.1570-23_1570-3dup
NM_139156.3:c.1327-23_1327-3dup	NP_631895.1:n.1327-23_1327-3dup
NM_203404.1:c.1213-23_1213-3dup	NP_981949.1:n.1213-23_1213-3dup
XM_011541247.1:c.1783-23_1783-3dup	XP_011539549.1:n.1783-23_1783-3dup
XM_011541248.1:c.1782+125_1782+145dup	XP_011539550.1:n.1782+125_1782+145dup
XR_946607.1:n.1806-23_1806-3dup
XM_024446431.1:c.1345-23_1345-3dup	XP_024302199.1:n.1345-23_1345-3dup
XM_024446432.1:c.1430+125_1430+145dup	XP_024302200.1:n.1430+125_1430+145dup
XR_002956282.1:n.1981-23_1981-3dup
NM_001257360.2:c.1570-23_1570-3dup	NP_001244289.1:n.1570-23_1570-3dup
NM_001368809.2:c.1408-23_1408-3dup MANE Select	NP_001355738.1:n.1408-23_1408-3dup
NM_004037.9:c.1408-23_1408-3dup	NP_004028.4:n.1408-23_1408-3dup
NM_001257361.2:c.1216-23_1216-3dup	NP_001244290.1:n.1216-23_1216-3dup
NM_139156.4:c.1327-23_1327-3dup	NP_631895.1:n.1327-23_1327-3dup