Canonical Allele Identifier: CA4293071

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74059959_74059994del , CM000669.2:g.74059959_74059994del GRCh38
NC_000007.13:g.73474289_73474324del , CM000669.1:g.73474289_73474324del GRCh37
NC_000007.12:g.73112225_73112260del NCBI36
NG_009261.1:g.36863_36898del

Transcript Alleles

HGVS Amino-acid Change
ENST00000692049.1:c.1575_1610del (ELN) ENSP00000510104.1:p.Leu526_Gly537del
ENST00000252034.12:c.1488_1523del (ELN) MANE Select ENSP00000252034.7:p.Leu497_Gly508del
ENST00000252034.11:c.1488_1523del (ELN) ENSP00000252034.7:p.Leu497_Gly508del
ENST00000320399.10:c.1488_1523del (ELN) ENSP00000313565.6:p.Leu497_Gly508del
ENST00000320492.11:c.1245_1280del (ELN) ENSP00000315607.7:p.Leu416_Gly427del
ENST00000357036.9:c.1503_1538del (ELN) ENSP00000349540.5:p.Leu502_Gly513del
ENST00000358929.8:c.1575_1610del (ELN) ENSP00000351807.5:p.Leu526_Gly537del
ENST00000380553.8:c.1080_1115del (ELN) ENSP00000369926.4:p.Leu361_Gly372del
ENST00000380562.8:c.1506_1541del (ELN) ENSP00000369936.4:p.Leu503_Gly514del
ENST00000380575.8:c.1401_1436del (ELN) ENSP00000369949.4:p.Leu468_Gly479del
ENST00000380576.9:c.1431_1466del (ELN) ENSP00000369950.5:p.Leu478_Gly489del
ENST00000380584.8:c.1389_1424del (ELN) ENSP00000369958.4:p.Leu464_Gly475del
ENST00000414324.5:c.1416_1451del (ELN) ENSP00000392575.1:p.Leu473_Gly484del
ENST00000429192.5:c.1446_1481del (ELN) ENSP00000391129.1:p.Leu483_Gly494del
ENST00000445912.5:c.1488_1523del (ELN) ENSP00000389857.1:p.Leu497_Gly508del
ENST00000458204.5:c.1458_1493del (ELN) ENSP00000403162.1:p.Leu487_Gly498del
ENST00000621115.4:c.1221_1256del (ELN) ENSP00000480955.1:p.Leu408_Gly419del
NM_000501.3:c.1488_1523del (ELN) NP_000492.2:p.Leu497_Gly508del
NM_001081752.2:c.1401_1436del (ELN) NP_001075221.1:p.Leu468_Gly479del
NM_001081753.2:c.1446_1481del (ELN) NP_001075222.1:p.Leu483_Gly494del
NM_001081754.2:c.1503_1538del (ELN) NP_001075223.1:p.Leu502_Gly513del
NM_001081755.2:c.1431_1466del (ELN) NP_001075224.1:p.Leu478_Gly489del
NM_001278912.1:c.1488_1523del (ELN) NP_001265841.1:p.Leu497_Gly508del
NM_001278913.1:c.1245_1280del (ELN) NP_001265842.1:p.Leu416_Gly427del
NM_001278914.1:c.1416_1451del (ELN) NP_001265843.1:p.Leu473_Gly484del
NM_001278915.1:c.1506_1541del (ELN) NP_001265844.1:p.Leu503_Gly514del
NM_001278916.1:c.1389_1424del (ELN) NP_001265845.1:p.Leu464_Gly475del
NM_001278917.1:c.1458_1493del (ELN) NP_001265846.1:p.Leu487_Gly498del
NM_001278918.1:c.1221_1256del (ELN) NP_001265847.1:p.Leu408_Gly419del
NM_001278939.1:c.1575_1610del (ELN) NP_001265868.1:p.Leu526_Gly537del
XM_005250187.1:c.1452_1487del (ELN) XP_005250244.1:p.Leu485_Gly496del
XM_005250188.1:c.1446_1481del (ELN) XP_005250245.1:p.Leu483_Gly494del
XM_011515868.1:c.1503_1538del (ELN) XP_011514170.1:p.Leu502_Gly513del
XM_011515869.1:c.1473_1508del (ELN) XP_011514171.1:p.Leu492_Gly503del
XM_011515870.1:c.1467_1502del (ELN) XP_011514172.1:p.Leu490_Gly501del
XM_011515871.1:c.1461_1496del (ELN) XP_011514173.1:p.Leu488_Gly499del
XM_011515872.1:c.1449_1484del (ELN) XP_011514174.1:p.Leu484_Gly495del
XM_011515873.1:c.1446_1481del (ELN) XP_011514175.1:p.Leu483_Gly494del
XM_011515874.1:c.1437_1472del (ELN) XP_011514176.1:p.Leu480_Gly491del
XM_011515875.1:c.1422_1457del (ELN) XP_011514177.1:p.Leu475_Gly486del
XM_011515876.1:c.1503_1538del (ELN) XP_011514178.1:p.Leu502_Gly513del
XM_011515877.1:c.1392_1427del (ELN) XP_011514179.1:p.Leu465_Gly476del
XM_005250187.2:c.1452_1487del (ELN) XP_005250244.1:p.Leu485_Gly496del
XM_005250188.2:c.1446_1481del (ELN) XP_005250245.1:p.Leu483_Gly494del
XM_011515868.2:c.1503_1538del (ELN) XP_011514170.1:p.Leu502_Gly513del
XM_011515871.2:c.1461_1496del (ELN) XP_011514173.1:p.Leu488_Gly499del
XM_011515872.2:c.1449_1484del (ELN) XP_011514174.1:p.Leu484_Gly495del
XM_011515873.2:c.1446_1481del (ELN) XP_011514175.1:p.Leu483_Gly494del
XM_011515875.2:c.1422_1457del (ELN) XP_011514177.1:p.Leu475_Gly486del
XM_011515876.2:c.1503_1538del (ELN) XP_011514178.1:p.Leu502_Gly513del
XM_011515877.2:c.1392_1427del (ELN) XP_011514179.1:p.Leu465_Gly476del
XM_017011813.1:c.1416_1451del (ELN) XP_016867302.1:p.Leu473_Gly484del
XM_017011814.2:c.1404_1439del (ELN) XP_016867303.1:p.Leu469_Gly480del
XR_001745243.1:n.131_166del (ELN-AS1)
NM_000501.4:c.1488_1523del (ELN) MANE Select NP_000492.2:p.Leu497_Gly508del
NM_001081752.3:c.1401_1436del (ELN) NP_001075221.1:p.Leu468_Gly479del
NM_001081753.3:c.1446_1481del (ELN) NP_001075222.1:p.Leu483_Gly494del
NM_001081754.3:c.1503_1538del (ELN) NP_001075223.1:p.Leu502_Gly513del
NM_001081755.3:c.1431_1466del (ELN) NP_001075224.1:p.Leu478_Gly489del
NM_001278912.2:c.1488_1523del (ELN) NP_001265841.1:p.Leu497_Gly508del
NM_001278913.2:c.1245_1280del (ELN) NP_001265842.1:p.Leu416_Gly427del
NM_001278914.2:c.1416_1451del (ELN) NP_001265843.1:p.Leu473_Gly484del
NM_001278915.2:c.1506_1541del (ELN) NP_001265844.1:p.Leu503_Gly514del
NM_001278916.2:c.1389_1424del (ELN) NP_001265845.1:p.Leu464_Gly475del
NM_001278917.2:c.1458_1493del (ELN) NP_001265846.1:p.Leu487_Gly498del
NM_001278918.2:c.1221_1256del (ELN) NP_001265847.1:p.Leu408_Gly419del
NM_001278939.2:c.1575_1610del (ELN) NP_001265868.1:p.Leu526_Gly537del