Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822362_53822367dup , CM000672.2:g.53822362_53822367dup	GRCh38
NC_000010.10:g.55582122_55582127dup , CM000672.1:g.55582122_55582127dup	GRCh37
NC_000010.9:g.55252128_55252133dup	NCBI36
NG_009191.2:g.983935_983940dup
NG_009191.3:g.1811826_1811831dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2779_4409+2784dup	ENSP00000482794.1:n.4409+2779_4409+2784dup
ENST00000320301.11:c.5369_5374dup MANE Plus Clinical	ENSP00000322604.6:p.Pro1791_Pro1792insLeuPro
ENST00000395445.6:c.4388+5036_4388+5041dup	ENSP00000378832.2:n.4388+5036_4388+5041dup
ENST00000613657.5:c.4409+2779_4409+2784dup	ENSP00000482794.1:n.4409+2779_4409+2784dup
ENST00000642496.1:c.3227-2127_3227-2122dup
ENST00000644397.2:c.4368-2127_4368-2122dup MANE Select	ENSP00000495195.1:n.4368-2127_4368-2122dup
ENST00000320301.10:c.5369_5374dup	ENSP00000322604.6:p.Pro1791_Pro1792insLeuPro
ENST00000361849.7:c.5375_5380dup	ENSP00000354950.3:p.Pro1793_Pro1794insLeuPro
ENST00000373956.7:c.3324_3329dup	ENSP00000363067.4:n.3324_3329dup
ENST00000373957.7:c.5390_5395dup	ENSP00000363068.4:p.Pro1798_Pro1799insLeuPro
ENST00000373965.6:c.4373+2779_4373+2784dup	ENSP00000363076.3:n.4373+2779_4373+2784dup
ENST00000395430.5:c.5360_5365dup	ENSP00000378818.1:p.Pro1788_Pro1789insLeuPro
ENST00000395432.6:c.5249_5254dup	ENSP00000378820.2:p.Pro1751_Pro1752insLeuPro
ENST00000395433.5:c.5300_5305dup	ENSP00000378821.1:p.Pro1768_Pro1769insLeuPro
ENST00000395438.5:c.4371+5035_4371+5040dup	ENSP00000378826.2:n.4371+5035_4371+5040dup
ENST00000395440.5:c.1306-12811_1306-12806dup	ENSP00000378827.1:n.1306-12811_1306-12806dup
ENST00000395442.5:c.1099-12811_1099-12806dup	ENSP00000378829.1:n.1099-12811_1099-12806dup
ENST00000395445.5:c.4388+5036_4388+5041dup	ENSP00000378832.2:n.4388+5036_4388+5041dup
ENST00000395446.5:c.2092-12811_2092-12806dup	ENSP00000378833.1:n.2092-12811_2092-12806dup
ENST00000409834.5:c.3206+2779_3206+2784dup	ENSP00000386693.1:n.3206+2779_3206+2784dup
ENST00000414367.5:c.447+5036_447+5041dup	ENSP00000412531.1:n.447+5036_447+5041dup
ENST00000414778.5:c.4370+5036_4370+5041dup	ENSP00000410304.2:n.4370+5036_4370+5041dup
ENST00000437009.5:c.5162_5167dup	ENSP00000412628.2:p.Pro1722_Pro1723insLeuPro
ENST00000448885.5:c.3330_3335dup	ENSP00000412320.1:n.3330_3335dup
ENST00000463095.2:n.2388_2393dup
ENST00000495484.5:c.462-4344_462-4339dup	ENSP00000480780.1:n.462-4344_462-4339dup
ENST00000612394.4:c.4406+5036_4406+5041dup	ENSP00000482921.1:n.4406+5036_4406+5041dup
ENST00000613657.4:c.4409+2779_4409+2784dup	ENSP00000482794.1:n.4409+2779_4409+2784dup
ENST00000614895.4:c.4385+5036_4385+5041dup	ENSP00000478512.1:n.4385+5036_4385+5041dup
ENST00000616114.4:c.4367+5036_4367+5041dup	ENSP00000483745.1:n.4367+5036_4367+5041dup
ENST00000617051.4:c.5396_5401dup	ENSP00000484703.1:p.Pro1800_Pro1801insLeuPro
ENST00000617271.4:c.4373+2779_4373+2784dup	ENSP00000478076.1:n.4373+2779_4373+2784dup
ENST00000618301.4:c.594-4344_594-4339dup	ENSP00000482780.1:n.594-4344_594-4339dup
ENST00000621708.4:c.4388+2779_4388+2784dup	ENSP00000484454.1:n.4388+2779_4388+2784dup
ENST00000622048.4:c.5168_5173dup	ENSP00000482329.1:p.Pro1724_Pro1725insLeuPro
NM_001142763.1:c.5390_5395dup	NP_001136235.1:p.Pro1798_Pro1799insLeuPro
NM_001142764.1:c.5375_5380dup	NP_001136236.1:p.Pro1793_Pro1794insLeuPro
NM_001142765.1:c.5162_5167dup	NP_001136237.1:p.Pro1722_Pro1723insLeuPro
NM_001142766.1:c.5360_5365dup	NP_001136238.1:p.Pro1788_Pro1789insLeuPro
NM_001142767.1:c.5249_5254dup	NP_001136239.1:p.Pro1751_Pro1752insLeuPro
NM_001142768.1:c.5309_5314dup	NP_001136240.1:p.Pro1771_Pro1772insLeuPro
NM_001142769.1:c.4409+2779_4409+2784dup	NP_001136241.1:n.4409+2779_4409+2784dup
NM_001142770.1:c.4373+2779_4373+2784dup	NP_001136242.1:n.4373+2779_4373+2784dup
NM_001142771.1:c.4388+2779_4388+2784dup	NP_001136243.1:n.4388+2779_4388+2784dup
NM_001142772.1:c.4373+2779_4373+2784dup	NP_001136244.1:n.4373+2779_4373+2784dup
NM_001142773.1:c.5300_5305dup	NP_001136245.1:p.Pro1768_Pro1769insLeuPro
NM_033056.3:c.5369_5374dup	NP_149045.3:p.Pro1791_Pro1792insLeuPro
NM_001142769.2:c.4409+2779_4409+2784dup	NP_001136241.1:n.4409+2779_4409+2784dup
NM_001142770.2:c.4373+2779_4373+2784dup	NP_001136242.1:n.4373+2779_4373+2784dup
NM_001354404.1:c.5303_5308dup	NP_001341333.1:p.Pro1769_Pro1770insLeuPro
NM_001354411.1:c.4388+5036_4388+5041dup	NP_001341340.1:n.4388+5036_4388+5041dup
NM_001354420.1:c.4367+5036_4367+5041dup	NP_001341349.1:n.4367+5036_4367+5041dup
NM_001354429.1:c.4368-4344_4368-4339dup	NP_001341358.1:n.4368-4344_4368-4339dup
XM_017016573.2:c.4388+2779_4388+2784dup	XP_016872062.1:n.4388+2779_4388+2784dup
XR_001747192.2:n.6382_6387dup
XR_001747193.2:n.6373_6378dup
NM_001142763.2:c.5390_5395dup	NP_001136235.1:p.Pro1798_Pro1799insLeuPro
NM_001142764.2:c.5375_5380dup	NP_001136236.1:p.Pro1793_Pro1794insLeuPro
NM_001142765.2:c.5162_5167dup	NP_001136237.1:p.Pro1722_Pro1723insLeuPro
NM_001142766.2:c.5360_5365dup	NP_001136238.1:p.Pro1788_Pro1789insLeuPro
NM_001142768.2:c.5309_5314dup	NP_001136240.1:p.Pro1771_Pro1772insLeuPro
NM_001142769.3:c.4409+2779_4409+2784dup	NP_001136241.1:n.4409+2779_4409+2784dup
NM_001142770.3:c.4373+2779_4373+2784dup	NP_001136242.1:n.4373+2779_4373+2784dup
NM_001142771.2:c.4388+2779_4388+2784dup	NP_001136243.1:n.4388+2779_4388+2784dup
NM_001142772.2:c.4373+2779_4373+2784dup	NP_001136244.1:n.4373+2779_4373+2784dup
NM_001142773.2:c.5300_5305dup	NP_001136245.1:p.Pro1768_Pro1769insLeuPro
NM_001354411.2:c.4388+5036_4388+5041dup	NP_001341340.1:n.4388+5036_4388+5041dup
NM_001354420.2:c.4367+5036_4367+5041dup	NP_001341349.1:n.4367+5036_4367+5041dup
NM_001354429.2:c.4368-4344_4368-4339dup	NP_001341358.1:n.4368-4344_4368-4339dup
NM_033056.4:c.5369_5374dup MANE Plus Clinical	NP_149045.3:p.Pro1791_Pro1792insLeuPro
NM_001142767.2:c.5249_5254dup	NP_001136239.1:p.Pro1751_Pro1752insLeuPro
NM_001354404.2:c.5303_5308dup	NP_001341333.1:p.Pro1769_Pro1770insLeuPro
NM_001384140.1:c.4368-2127_4368-2122dup MANE Select	NP_001371069.1:n.4368-2127_4368-2122dup

Linked Data

Genomic Alleles

Transcript Alleles