Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45329313dup , CM000663.2:g.45329313dup	GRCh38
NC_000001.10:g.45794985dup , CM000663.1:g.45794985dup	GRCh37
NC_000001.9:g.45567572dup	NCBI36
NG_008189.1:g.16160dup , LRG_220:g.16160dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.1177dup	ENSP00000410263.2:p.Gln393ProfsTer11
ENST00000435155.2:c.1594dup	ENSP00000403655.2:p.Gln532ProfsTer11
ENST00000467459.6:c.*423dup	ENSP00000435889.2:n.*423dup
ENST00000483127.2:c.1579dup	ENSP00000436469.2:p.Gln527ProfsTer11
ENST00000485271.6:c.*304dup	ENSP00000431264.2:n.*304dup
ENST00000529892.6:c.1414dup	ENSP00000432528.2:p.Gln472ProfsTer11
ENST00000533178.6:c.*890dup	ENSP00000436430.2:n.*890dup
ENST00000672314.2:c.1561dup	ENSP00000500828.2:p.Gln521ProfsTer11
ENST00000710952.2:c.1645dup MANE Plus Clinical	ENSP00000518552.2:p.Gln549ProfsTer11
ENST00000672818.3:c.1636dup	ENSP00000500891.1:p.Gln546ProfsTer11
ENST00000456914.7:c.1561dup MANE Select	ENSP00000407590.2:p.Gln521ProfsTer11
ENST00000671898.1:c.*304dup	ENSP00000499896.1:n.*304dup
ENST00000672011.1:c.*890dup	ENSP00000500418.1:n.*890dup
ENST00000672818.2:c.1636dup	ENSP00000500891.1:p.Gln546ProfsTer11
ENST00000354383.10:c.1564dup	ENSP00000346354.6:p.Gln522ProfsTer11
ENST00000355498.6:c.1561dup	ENSP00000347685.2:p.Gln521ProfsTer11
ENST00000372098.7:c.1636dup	ENSP00000361170.3:p.Gln546ProfsTer11
ENST00000372104.5:c.1561dup	ENSP00000361176.1:p.Gln521ProfsTer11
ENST00000372110.7:c.1606dup	ENSP00000361182.3:p.Gln536ProfsTer11
ENST00000372115.7:c.1603dup	ENSP00000361187.3:p.Gln535ProfsTer11
ENST00000448481.5:c.1594dup	ENSP00000409718.1:p.Gln532ProfsTer11
ENST00000450313.5:c.1645dup	ENSP00000408176.1:p.Gln549ProfsTer11
ENST00000456914.6:c.1561dup	ENSP00000407590.2:p.Gln521ProfsTer11
ENST00000467459.5:c.978dup	ENSP00000435889.1:n.978dup
ENST00000475516.5:c.*1374dup	ENSP00000433843.1:n.*1374dup
ENST00000481571.5:c.*1374dup	ENSP00000436597.1:n.*1374dup
ENST00000482094.5:n.882dup
ENST00000485271.5:c.438dup
ENST00000488731.6:c.646dup	ENSP00000432330.1:p.Gln216ProfsTer11
ENST00000528013.6:c.1603dup	ENSP00000433130.2:p.Gln535ProfsTer?
ENST00000529892.5:c.636dup
ENST00000529984.5:c.646dup	ENSP00000437093.1:p.Gln216ProfsTer11
ENST00000531105.5:c.*53dup	ENSP00000431292.1:n.*53dup
ENST00000533178.5:c.1190dup	ENSP00000436430.1:n.1190dup
NM_001048171.1:c.1603dup	NP_001041636.1:p.Gln535ProfsTer11
NM_001048172.1:c.1564dup	NP_001041637.1:p.Gln522ProfsTer11
NM_001048173.1:c.1561dup	NP_001041638.1:p.Gln521ProfsTer11
NM_001048174.1:c.1561dup	NP_001041639.1:p.Gln521ProfsTer11
NM_001128425.1:c.1645dup , LRG_220t1:c.1645dup	NP_001121897.1:p.Gln549ProfsTer11
NM_001293190.1:c.1606dup	NP_001280119.1:p.Gln536ProfsTer11
NM_001293191.1:c.1594dup	NP_001280120.1:p.Gln532ProfsTer11
NM_001293192.1:c.1285dup	NP_001280121.1:p.Gln429ProfsTer11
NM_001293195.1:c.1561dup	NP_001280124.1:p.Gln521ProfsTer11
NM_001293196.1:c.1285dup	NP_001280125.1:p.Gln429ProfsTer11
NM_012222.2:c.1636dup	NP_036354.1:p.Gln546ProfsTer11
XM_011541497.1:c.1621dup	XP_011539799.1:p.Gln541ProfsTer11
XM_011541498.1:c.1603dup	XP_011539800.1:p.Gln535ProfsTer11
XM_011541499.1:c.1603dup	XP_011539801.1:p.Gln535ProfsTer11
XM_011541500.1:c.1603dup	XP_011539802.1:p.Gln535ProfsTer11
XM_011541501.1:c.1603dup	XP_011539803.1:p.Gln535ProfsTer11
XM_011541502.1:c.1603dup	XP_011539804.1:p.Gln535ProfsTer11
XM_011541503.1:c.1603dup	XP_011539805.1:p.Gln535ProfsTer11
XM_011541504.1:c.1594dup	XP_011539806.1:p.Gln532ProfsTer11
XM_011541505.1:c.1183dup	XP_011539807.1:p.Gln395ProfsTer11
XM_011541506.1:c.1183dup	XP_011539808.1:p.Gln395ProfsTer11
XM_011541507.1:c.1174dup	XP_011539809.1:p.Gln392ProfsTer11
XM_011541508.1:c.1189dup	XP_011539810.1:p.Gln397ProfsTer11
XR_946658.1:n.1872dup
NM_001350650.1:c.1216dup	NP_001337579.1:p.Gln406ProfsTer11
NM_001350651.1:c.1216dup	NP_001337580.1:p.Gln406ProfsTer11
NR_146882.1:n.1999dup
NR_146883.1:n.1813dup
XM_011541497.3:c.1621dup	XP_011539799.1:p.Gln541ProfsTer11
XM_011541500.3:c.1603dup	XP_011539802.1:p.Gln535ProfsTer11
XM_011541501.2:c.1603dup	XP_011539803.1:p.Gln535ProfsTer11
XM_011541502.2:c.1603dup	XP_011539804.1:p.Gln535ProfsTer11
XM_011541503.2:c.1603dup	XP_011539805.1:p.Gln535ProfsTer11
XM_011541504.2:c.1594dup	XP_011539806.1:p.Gln532ProfsTer11
XM_011541505.2:c.1183dup	XP_011539807.1:p.Gln395ProfsTer11
XM_011541506.2:c.1183dup	XP_011539808.1:p.Gln395ProfsTer11
XM_017001331.1:c.1603dup	XP_016856820.1:p.Gln535ProfsTer11
XM_017001332.1:c.1603dup	XP_016856821.1:p.Gln535ProfsTer11
XM_017001333.1:c.1603dup	XP_016856822.1:p.Gln535ProfsTer11
XM_017001334.1:c.1564dup	XP_016856823.1:p.Gln522ProfsTer11
XM_017001335.1:c.1285dup	XP_016856824.1:p.Gln429ProfsTer11
XM_017001336.1:c.1216dup	XP_016856825.1:p.Gln406ProfsTer11
XM_017001337.1:c.1216dup	XP_016856826.1:p.Gln406ProfsTer11
XM_024447244.1:c.1216dup	XP_024303012.1:p.Gln406ProfsTer11
XM_024447245.1:c.1216dup	XP_024303013.1:p.Gln406ProfsTer11
XM_024447248.1:c.1174dup	XP_024303016.1:p.Gln392ProfsTer11
XM_024447249.1:c.1045dup	XP_024303017.1:p.Gln349ProfsTer11
XM_024447250.1:c.1045dup	XP_024303018.1:p.Gln349ProfsTer11
XM_024447251.1:c.1045dup	XP_024303019.1:p.Gln349ProfsTer11
XR_001737190.1:n.1786dup
XR_001737192.1:n.1598dup
XR_002956643.1:n.1778dup
XR_002956644.1:n.2313dup
XR_946658.2:n.1886dup
NM_001048171.2:c.1561dup	NP_001041636.2:p.Gln521ProfsTer11
NM_001128425.2:c.1645dup MANE Plus Clinical	NP_001121897.1:p.Gln549ProfsTer11
NM_001048172.2:c.1564dup	NP_001041637.1:p.Gln522ProfsTer11
NM_001048173.2:c.1561dup	NP_001041638.1:p.Gln521ProfsTer11
NM_001048174.2:c.1561dup MANE Select	NP_001041639.1:p.Gln521ProfsTer11
NM_001293190.2:c.1606dup	NP_001280119.1:p.Gln536ProfsTer11
NM_001293191.2:c.1594dup	NP_001280120.1:p.Gln532ProfsTer11
NM_001293192.2:c.1285dup	NP_001280121.1:p.Gln429ProfsTer11
NM_001293195.2:c.1561dup	NP_001280124.1:p.Gln521ProfsTer11
NM_001293196.2:c.1285dup	NP_001280125.1:p.Gln429ProfsTer11
NM_001350650.2:c.1216dup	NP_001337579.1:p.Gln406ProfsTer11
NM_001350651.2:c.1216dup	NP_001337580.1:p.Gln406ProfsTer11
NM_012222.3:c.1636dup	NP_036354.1:p.Gln546ProfsTer11
NR_146882.2:n.1969dup
NR_146883.2:n.1818dup

Linked Data

Genomic Alleles

Transcript Alleles