Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45330527del , CM000663.2:g.45330527del	GRCh38
NC_000001.10:g.45796199del , CM000663.1:g.45796199del	GRCh37
NC_000001.9:g.45568786del	NCBI36
NG_008189.1:g.14946del , LRG_220:g.14946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.1041del	ENSP00000410263.2:p.Thr348ProfsTer?
ENST00000435155.2:c.1458del	ENSP00000403655.2:p.Thr487ProfsTer?
ENST00000467459.6:c.*287del	ENSP00000435889.2:n.*287del
ENST00000483127.2:c.1443del	ENSP00000436469.2:p.Thr482ProfsTer?
ENST00000485271.6:c.1425del	ENSP00000431264.2:p.Thr476ProfsTer11
ENST00000529892.6:c.1278del	ENSP00000432528.2:p.Thr427ProfsTer?
ENST00000533178.6:c.*754del	ENSP00000436430.2:n.*754del
ENST00000672314.2:c.1425del	ENSP00000500828.2:p.Thr476ProfsTer?
ENST00000710952.2:c.1509del MANE Plus Clinical	ENSP00000518552.2:p.Thr504ProfsTer?
ENST00000672818.3:c.1500del	ENSP00000500891.1:p.Thr501ProfsTer?
ENST00000456914.7:c.1425del MANE Select	ENSP00000407590.2:p.Thr476ProfsTer?
ENST00000671898.1:c.2013del	ENSP00000499896.1:p.Thr672ProfsTer11
ENST00000672011.1:c.*754del	ENSP00000500418.1:n.*754del
ENST00000672818.2:c.1500del	ENSP00000500891.1:p.Thr501ProfsTer?
ENST00000673134.1:c.*1122del	ENSP00000500526.1:n.*1122del
ENST00000354383.10:c.1428del	ENSP00000346354.6:p.Thr477ProfsTer?
ENST00000355498.6:c.1425del	ENSP00000347685.2:p.Thr476ProfsTer?
ENST00000372098.7:c.1500del	ENSP00000361170.3:p.Thr501ProfsTer?
ENST00000372104.5:c.1425del	ENSP00000361176.1:p.Thr476ProfsTer?
ENST00000372110.7:c.1470del	ENSP00000361182.3:p.Thr491ProfsTer?
ENST00000372115.7:c.1467del	ENSP00000361187.3:p.Thr490ProfsTer?
ENST00000448481.5:c.1458del	ENSP00000409718.1:p.Thr487ProfsTer?
ENST00000450313.5:c.1509del	ENSP00000408176.1:p.Thr504ProfsTer?
ENST00000456914.6:c.1425del	ENSP00000407590.2:p.Thr476ProfsTer?
ENST00000467459.5:c.842del	ENSP00000435889.1:n.842del
ENST00000475516.5:c.*1238del	ENSP00000433843.1:n.*1238del
ENST00000481571.5:c.*1238del	ENSP00000436597.1:n.*1238del
ENST00000482094.5:n.746del
ENST00000485271.5:c.122del
ENST00000488731.6:c.510del	ENSP00000432330.1:p.Thr171ProfsTer?
ENST00000528013.6:c.1467del	ENSP00000433130.2:p.Thr490ProfsTer?
ENST00000529892.5:c.500del
ENST00000529984.5:c.510del	ENSP00000437093.1:p.Thr171ProfsTer?
ENST00000531105.5:c.116-1088del	ENSP00000431292.1:n.116-1088del
ENST00000533178.5:c.1054del	ENSP00000436430.1:n.1054del
NM_001048171.1:c.1467del	NP_001041636.1:p.Thr490ProfsTer?
NM_001048172.1:c.1428del	NP_001041637.1:p.Thr477ProfsTer?
NM_001048173.1:c.1425del	NP_001041638.1:p.Thr476ProfsTer?
NM_001048174.1:c.1425del	NP_001041639.1:p.Thr476ProfsTer?
NM_001128425.1:c.1509del , LRG_220t1:c.1509del	NP_001121897.1:p.Thr504ProfsTer?
NM_001293190.1:c.1470del	NP_001280119.1:p.Thr491ProfsTer?
NM_001293191.1:c.1458del	NP_001280120.1:p.Thr487ProfsTer?
NM_001293192.1:c.1149del	NP_001280121.1:p.Thr384ProfsTer?
NM_001293195.1:c.1425del	NP_001280124.1:p.Thr476ProfsTer?
NM_001293196.1:c.1149del	NP_001280125.1:p.Thr384ProfsTer?
NM_012222.2:c.1500del	NP_036354.1:p.Thr501ProfsTer?
XM_011541497.1:c.1485del	XP_011539799.1:p.Thr496ProfsTer?
XM_011541498.1:c.1467del	XP_011539800.1:p.Thr490ProfsTer?
XM_011541499.1:c.1467del	XP_011539801.1:p.Thr490ProfsTer?
XM_011541500.1:c.1467del	XP_011539802.1:p.Thr490ProfsTer?
XM_011541501.1:c.1467del	XP_011539803.1:p.Thr490ProfsTer?
XM_011541502.1:c.1467del	XP_011539804.1:p.Thr490ProfsTer?
XM_011541503.1:c.1467del	XP_011539805.1:p.Thr490ProfsTer?
XM_011541504.1:c.1458del	XP_011539806.1:p.Thr487ProfsTer?
XM_011541505.1:c.1047del	XP_011539807.1:p.Thr350ProfsTer?
XM_011541506.1:c.1047del	XP_011539808.1:p.Thr350ProfsTer?
XM_011541507.1:c.1038del	XP_011539809.1:p.Thr347ProfsTer?
XM_011541508.1:c.1053del	XP_011539810.1:p.Thr352ProfsTer?
XR_946658.1:n.1556del
NM_001350650.1:c.1080del	NP_001337579.1:p.Thr361ProfsTer?
NM_001350651.1:c.1080del	NP_001337580.1:p.Thr361ProfsTer?
NR_146882.1:n.1683del
NR_146883.1:n.1497del
XM_011541497.3:c.1485del	XP_011539799.1:p.Thr496ProfsTer?
XM_011541500.3:c.1467del	XP_011539802.1:p.Thr490ProfsTer?
XM_011541501.2:c.1467del	XP_011539803.1:p.Thr490ProfsTer?
XM_011541502.2:c.1467del	XP_011539804.1:p.Thr490ProfsTer?
XM_011541503.2:c.1467del	XP_011539805.1:p.Thr490ProfsTer?
XM_011541504.2:c.1458del	XP_011539806.1:p.Thr487ProfsTer?
XM_011541505.2:c.1047del	XP_011539807.1:p.Thr350ProfsTer?
XM_011541506.2:c.1047del	XP_011539808.1:p.Thr350ProfsTer?
XM_017001331.1:c.1467del	XP_016856820.1:p.Thr490ProfsTer?
XM_017001332.1:c.1467del	XP_016856821.1:p.Thr490ProfsTer?
XM_017001333.1:c.1467del	XP_016856822.1:p.Thr490ProfsTer?
XM_017001334.1:c.1428del	XP_016856823.1:p.Thr477ProfsTer?
XM_017001335.1:c.1149del	XP_016856824.1:p.Thr384ProfsTer?
XM_017001336.1:c.1080del	XP_016856825.1:p.Thr361ProfsTer?
XM_017001337.1:c.1080del	XP_016856826.1:p.Thr361ProfsTer?
XM_024447244.1:c.1080del	XP_024303012.1:p.Thr361ProfsTer?
XM_024447245.1:c.1080del	XP_024303013.1:p.Thr361ProfsTer?
XM_024447248.1:c.1038del	XP_024303016.1:p.Thr347ProfsTer?
XM_024447249.1:c.909del	XP_024303017.1:p.Thr304ProfsTer?
XM_024447250.1:c.909del	XP_024303018.1:p.Thr304ProfsTer?
XM_024447251.1:c.909del	XP_024303019.1:p.Thr304ProfsTer?
XR_001737190.1:n.1470del
XR_001737192.1:n.1282del
XR_002956643.1:n.1462del
XR_002956644.1:n.1997del
XR_946658.2:n.1570del
NM_001048171.2:c.1425del	NP_001041636.2:p.Thr476ProfsTer?
NM_001128425.2:c.1509del MANE Plus Clinical	NP_001121897.1:p.Thr504ProfsTer?
NM_001048172.2:c.1428del	NP_001041637.1:p.Thr477ProfsTer?
NM_001048173.2:c.1425del	NP_001041638.1:p.Thr476ProfsTer?
NM_001048174.2:c.1425del MANE Select	NP_001041639.1:p.Thr476ProfsTer?
NM_001293190.2:c.1470del	NP_001280119.1:p.Thr491ProfsTer?
NM_001293191.2:c.1458del	NP_001280120.1:p.Thr487ProfsTer?
NM_001293192.2:c.1149del	NP_001280121.1:p.Thr384ProfsTer?
NM_001293195.2:c.1425del	NP_001280124.1:p.Thr476ProfsTer?
NM_001293196.2:c.1149del	NP_001280125.1:p.Thr384ProfsTer?
NM_001350650.2:c.1080del	NP_001337579.1:p.Thr361ProfsTer?
NM_001350651.2:c.1080del	NP_001337580.1:p.Thr361ProfsTer?
NM_012222.3:c.1500del	NP_036354.1:p.Thr501ProfsTer?
NR_146882.2:n.1653del
NR_146883.2:n.1502del

Linked Data

Genomic Alleles

Transcript Alleles