Canonical Allele Identifier: CA4293067

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74059935_74059970del , CM000669.2:g.74059935_74059970del GRCh38
NC_000007.13:g.73474265_73474300del , CM000669.1:g.73474265_73474300del GRCh37
NC_000007.12:g.73112201_73112236del NCBI36
NG_009261.1:g.36839_36874del

Transcript Alleles

HGVS Amino-acid Change
ENST00000692049.1:c.1551_1586del (ELN) ENSP00000510104.1:p.Val518_Gly529del
ENST00000252034.12:c.1464_1499del (ELN) MANE Select ENSP00000252034.7:p.Val489_Gly500del
ENST00000252034.11:c.1464_1499del (ELN) ENSP00000252034.7:p.Val489_Gly500del
ENST00000320399.10:c.1464_1499del (ELN) ENSP00000313565.6:p.Val489_Gly500del
ENST00000320492.11:c.1221_1256del (ELN) ENSP00000315607.7:p.Val408_Gly419del
ENST00000357036.9:c.1479_1514del (ELN) ENSP00000349540.5:p.Val494_Gly505del
ENST00000358929.8:c.1551_1586del (ELN) ENSP00000351807.5:p.Val518_Gly529del
ENST00000380553.8:c.1056_1091del (ELN) ENSP00000369926.4:p.Val353_Gly364del
ENST00000380562.8:c.1482_1517del (ELN) ENSP00000369936.4:p.Val495_Gly506del
ENST00000380575.8:c.1377_1412del (ELN) ENSP00000369949.4:p.Val460_Gly471del
ENST00000380576.9:c.1407_1442del (ELN) ENSP00000369950.5:p.Val470_Gly481del
ENST00000380584.8:c.1365_1400del (ELN) ENSP00000369958.4:p.Val456_Gly467del
ENST00000414324.5:c.1392_1427del (ELN) ENSP00000392575.1:p.Val465_Gly476del
ENST00000429192.5:c.1422_1457del (ELN) ENSP00000391129.1:p.Val475_Gly486del
ENST00000445912.5:c.1464_1499del (ELN) ENSP00000389857.1:p.Val489_Gly500del
ENST00000458204.5:c.1434_1469del (ELN) ENSP00000403162.1:p.Val479_Gly490del
ENST00000621115.4:c.1197_1232del (ELN) ENSP00000480955.1:p.Val400_Gly411del
NM_000501.3:c.1464_1499del (ELN) NP_000492.2:p.Val489_Gly500del
NM_001081752.2:c.1377_1412del (ELN) NP_001075221.1:p.Val460_Gly471del
NM_001081753.2:c.1422_1457del (ELN) NP_001075222.1:p.Val475_Gly486del
NM_001081754.2:c.1479_1514del (ELN) NP_001075223.1:p.Val494_Gly505del
NM_001081755.2:c.1407_1442del (ELN) NP_001075224.1:p.Val470_Gly481del
NM_001278912.1:c.1464_1499del (ELN) NP_001265841.1:p.Val489_Gly500del
NM_001278913.1:c.1221_1256del (ELN) NP_001265842.1:p.Val408_Gly419del
NM_001278914.1:c.1392_1427del (ELN) NP_001265843.1:p.Val465_Gly476del
NM_001278915.1:c.1482_1517del (ELN) NP_001265844.1:p.Val495_Gly506del
NM_001278916.1:c.1365_1400del (ELN) NP_001265845.1:p.Val456_Gly467del
NM_001278917.1:c.1434_1469del (ELN) NP_001265846.1:p.Val479_Gly490del
NM_001278918.1:c.1197_1232del (ELN) NP_001265847.1:p.Val400_Gly411del
NM_001278939.1:c.1551_1586del (ELN) NP_001265868.1:p.Val518_Gly529del
XM_005250187.1:c.1428_1463del (ELN) XP_005250244.1:p.Val477_Gly488del
XM_005250188.1:c.1422_1457del (ELN) XP_005250245.1:p.Val475_Gly486del
XM_011515868.1:c.1479_1514del (ELN) XP_011514170.1:p.Val494_Gly505del
XM_011515869.1:c.1449_1484del (ELN) XP_011514171.1:p.Val484_Gly495del
XM_011515870.1:c.1443_1478del (ELN) XP_011514172.1:p.Val482_Gly493del
XM_011515871.1:c.1437_1472del (ELN) XP_011514173.1:p.Val480_Gly491del
XM_011515872.1:c.1425_1460del (ELN) XP_011514174.1:p.Val476_Gly487del
XM_011515873.1:c.1422_1457del (ELN) XP_011514175.1:p.Val475_Gly486del
XM_011515874.1:c.1413_1448del (ELN) XP_011514176.1:p.Val472_Gly483del
XM_011515875.1:c.1398_1433del (ELN) XP_011514177.1:p.Val467_Gly478del
XM_011515876.1:c.1479_1514del (ELN) XP_011514178.1:p.Val494_Gly505del
XM_011515877.1:c.1368_1403del (ELN) XP_011514179.1:p.Val457_Gly468del
XM_005250187.2:c.1428_1463del (ELN) XP_005250244.1:p.Val477_Gly488del
XM_005250188.2:c.1422_1457del (ELN) XP_005250245.1:p.Val475_Gly486del
XM_011515868.2:c.1479_1514del (ELN) XP_011514170.1:p.Val494_Gly505del
XM_011515871.2:c.1437_1472del (ELN) XP_011514173.1:p.Val480_Gly491del
XM_011515872.2:c.1425_1460del (ELN) XP_011514174.1:p.Val476_Gly487del
XM_011515873.2:c.1422_1457del (ELN) XP_011514175.1:p.Val475_Gly486del
XM_011515875.2:c.1398_1433del (ELN) XP_011514177.1:p.Val467_Gly478del
XM_011515876.2:c.1479_1514del (ELN) XP_011514178.1:p.Val494_Gly505del
XM_011515877.2:c.1368_1403del (ELN) XP_011514179.1:p.Val457_Gly468del
XM_017011813.1:c.1392_1427del (ELN) XP_016867302.1:p.Val465_Gly476del
XM_017011814.2:c.1380_1415del (ELN) XP_016867303.1:p.Val461_Gly472del
XR_001745243.1:n.148_183del (ELN-AS1)
NM_000501.4:c.1464_1499del (ELN) MANE Select NP_000492.2:p.Val489_Gly500del
NM_001081752.3:c.1377_1412del (ELN) NP_001075221.1:p.Val460_Gly471del
NM_001081753.3:c.1422_1457del (ELN) NP_001075222.1:p.Val475_Gly486del
NM_001081754.3:c.1479_1514del (ELN) NP_001075223.1:p.Val494_Gly505del
NM_001081755.3:c.1407_1442del (ELN) NP_001075224.1:p.Val470_Gly481del
NM_001278912.2:c.1464_1499del (ELN) NP_001265841.1:p.Val489_Gly500del
NM_001278913.2:c.1221_1256del (ELN) NP_001265842.1:p.Val408_Gly419del
NM_001278914.2:c.1392_1427del (ELN) NP_001265843.1:p.Val465_Gly476del
NM_001278915.2:c.1482_1517del (ELN) NP_001265844.1:p.Val495_Gly506del
NM_001278916.2:c.1365_1400del (ELN) NP_001265845.1:p.Val456_Gly467del
NM_001278917.2:c.1434_1469del (ELN) NP_001265846.1:p.Val479_Gly490del
NM_001278918.2:c.1197_1232del (ELN) NP_001265847.1:p.Val400_Gly411del
NM_001278939.2:c.1551_1586del (ELN) NP_001265868.1:p.Val518_Gly529del