Canonical Allele Identifier: CA2573887344

Gene: AMPD2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628682del , CM000663.2:g.109628682del	GRCh38
NC_000001.10:g.110171304del , CM000663.1:g.110171304del	GRCh37
NC_000001.9:g.109972827del	NCBI36
NG_034075.1:g.13870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1447del	ENSP00000256578.4:p.Ala483GlnfsTer?
ENST00000358729.9:c.1447del	ENSP00000351573.5:p.Ala483GlnfsTer?
ENST00000369840.7:c.1447del	ENSP00000358855.3:p.Ala483GlnfsTer?
ENST00000474459.6:n.2066del
ENST00000476688.3:c.1129del	ENSP00000437025.2:p.Ala377GlnfsTer?
ENST00000486282.7:n.2403del
ENST00000524975.2:n.1928del
ENST00000525415.2:n.1963del
ENST00000526301.6:n.1510del
ENST00000527846.7:n.1302del
ENST00000528667.7:c.1447del MANE Select	ENSP00000436541.2:p.Ala483GlnfsTer?
ENST00000531203.6:c.1255del	ENSP00000431975.2:p.Ala419GlnfsTer?
ENST00000531734.6:c.1366del	ENSP00000433739.2:p.Ala456GlnfsTer?
ENST00000652975.2:c.*1199del	ENSP00000499620.2:n.*1199del
ENST00000654851.1:n.1289del
ENST00000655992.1:c.1255del	ENSP00000499740.1:p.Ala419GlnfsTer?
ENST00000659122.2:c.1407+187del	ENSP00000499621.2:n.1407+187del
ENST00000663749.1:c.*1194del	ENSP00000499739.1:n.*1194del
ENST00000667949.2:c.847del	ENSP00000499465.2:p.Ala283GlnfsTer?
ENST00000668421.1:c.*1388del	ENSP00000499362.1:n.*1388del
ENST00000679379.1:c.*1199del	ENSP00000505528.1:n.*1199del
ENST00000679593.1:c.1447del	ENSP00000505999.1:p.Ala483GlnfsTer?
ENST00000679880.1:n.1983del
ENST00000679892.1:c.*1215del	ENSP00000504882.1:n.*1215del
ENST00000679981.1:c.*1461del	ENSP00000506422.1:n.*1461del
ENST00000680132.1:c.*1397del	ENSP00000505950.1:n.*1397del
ENST00000680148.1:c.*1199del	ENSP00000505994.1:n.*1199del
ENST00000680170.1:n.2312del
ENST00000680192.1:n.2405del
ENST00000680519.1:n.1683del
ENST00000680531.1:c.*1194del	ENSP00000506332.1:n.*1194del
ENST00000680820.1:c.*1199del	ENSP00000505735.1:n.*1199del
ENST00000680832.1:c.*1547del	ENSP00000505774.1:n.*1547del
ENST00000680929.1:c.*1136del	ENSP00000504916.1:n.*1136del
ENST00000681108.1:c.*1245+187del	ENSP00000506701.1:n.*1245+187del
ENST00000681121.1:c.*557del	ENSP00000506466.1:n.*557del
ENST00000681132.1:c.*1213del	ENSP00000506195.1:n.*1213del
ENST00000681181.1:c.*1432del	ENSP00000506038.1:n.*1432del
ENST00000681218.1:c.*1720del	ENSP00000505976.1:n.*1720del
ENST00000681246.1:c.*1103del	ENSP00000505534.1:n.*1103del
ENST00000681496.1:c.*1720del	ENSP00000505948.1:n.*1720del
ENST00000681834.1:n.1786del
ENST00000681862.1:c.*1573del	ENSP00000505537.1:n.*1573del
ENST00000256578.7:c.1609del	ENSP00000256578.3:p.Ala537GlnfsTer?
ENST00000342115.8:c.1366del	ENSP00000345498.4:p.Ala456GlnfsTer?
ENST00000358729.8:c.1384del	ENSP00000351573.4:p.Ala462GlnfsTer?
ENST00000369840.6:c.1520del
ENST00000393688.7:c.1252del	ENSP00000377292.3:p.Ala418GlnfsTer?
ENST00000526301.5:n.1648del
ENST00000528454.5:c.1255del	ENSP00000437164.1:p.Ala419GlnfsTer?
ENST00000528667.5:c.1609del	ENSP00000436541.1:p.Ala537GlnfsTer?
ENST00000532851.1:n.157del
ENST00000533132.1:n.149del
NM_001257360.1:c.1609del	NP_001244289.1:p.Ala537GlnfsTer?
NM_001257361.1:c.1255del	NP_001244290.1:p.Ala419GlnfsTer?
NM_001308170.1:c.1384del	NP_001295099.1:p.Ala462GlnfsTer?
NM_004037.7:c.1609del	NP_004028.3:p.Ala537GlnfsTer?
NM_139156.3:c.1366del	NP_631895.1:p.Ala456GlnfsTer?
NM_203404.1:c.1252del	NP_981949.1:p.Ala418GlnfsTer?
XM_011541247.1:c.1822del	XP_011539549.1:p.Ala608GlnfsTer?
XM_011541248.1:c.1782+187del	XP_011539550.1:n.1782+187del
XR_946607.1:n.1845del
XM_024446431.1:c.1384del	XP_024302199.1:p.Ala462GlnfsTer?
XM_024446432.1:c.1430+187del	XP_024302200.1:n.1430+187del
XR_002956282.1:n.2020del
NM_001257360.2:c.1609del	NP_001244289.1:p.Ala537GlnfsTer?
NM_001368809.2:c.1447del MANE Select	NP_001355738.1:p.Ala483GlnfsTer?
NM_004037.9:c.1447del	NP_004028.4:p.Ala483GlnfsTer?
NM_001257361.2:c.1255del	NP_001244290.1:p.Ala419GlnfsTer?
NM_139156.4:c.1366del	NP_631895.1:p.Ala456GlnfsTer?