Canonical Allele Identifier: CA4293055

Gene: ELN ELN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74059905_74059940del , CM000669.2:g.74059905_74059940del	GRCh38
NC_000007.13:g.73474235_73474270del , CM000669.1:g.73474235_73474270del	GRCh37
NC_000007.12:g.73112171_73112206del	NCBI36
NG_009261.1:g.36809_36844del

Transcript Alleles

HGVS	Amino-acid Change
NM_000501.4:c.1434_1469del (ELN) MANE Select	NP_000492.2:p.Val479_Gly490del
ENST00000252034.12:c.1434_1469del (ELN) MANE Select	ENSP00000252034.7:p.Val479_Gly490del
NM_000501.3:c.1434_1469del (ELN)	NP_000492.2:p.Val479_Gly490del
NM_001081752.2:c.1347_1382del (ELN)	NP_001075221.1:p.Val450_Gly461del
NM_001081752.3:c.1347_1382del (ELN)	NP_001075221.1:p.Val450_Gly461del
NM_001081753.2:c.1392_1427del (ELN)	NP_001075222.1:p.Val465_Gly476del
NM_001081753.3:c.1392_1427del (ELN)	NP_001075222.1:p.Val465_Gly476del
NM_001081754.2:c.1449_1484del (ELN)	NP_001075223.1:p.Val484_Gly495del
NM_001081754.3:c.1449_1484del (ELN)	NP_001075223.1:p.Val484_Gly495del
NM_001081755.2:c.1377_1412del (ELN)	NP_001075224.1:p.Val460_Gly471del
NM_001081755.3:c.1377_1412del (ELN)	NP_001075224.1:p.Val460_Gly471del
NM_001278912.1:c.1434_1469del (ELN)	NP_001265841.1:p.Val479_Gly490del
NM_001278912.2:c.1434_1469del (ELN)	NP_001265841.1:p.Val479_Gly490del
NM_001278913.1:c.1191_1226del (ELN)	NP_001265842.1:p.Val398_Gly409del
NM_001278913.2:c.1191_1226del (ELN)	NP_001265842.1:p.Val398_Gly409del
NM_001278914.1:c.1362_1397del (ELN)	NP_001265843.1:p.Val455_Gly466del
NM_001278914.2:c.1362_1397del (ELN)	NP_001265843.1:p.Val455_Gly466del
NM_001278915.1:c.1452_1487del (ELN)	NP_001265844.1:p.Val485_Gly496del
NM_001278915.2:c.1452_1487del (ELN)	NP_001265844.1:p.Val485_Gly496del
NM_001278916.1:c.1335_1370del (ELN)	NP_001265845.1:p.Val446_Gly457del
NM_001278916.2:c.1335_1370del (ELN)	NP_001265845.1:p.Val446_Gly457del
NM_001278917.1:c.1404_1439del (ELN)	NP_001265846.1:p.Val469_Gly480del
NM_001278917.2:c.1404_1439del (ELN)	NP_001265846.1:p.Val469_Gly480del
NM_001278918.1:c.1167_1202del (ELN)	NP_001265847.1:p.Val390_Gly401del
NM_001278918.2:c.1167_1202del (ELN)	NP_001265847.1:p.Val390_Gly401del
NM_001278939.1:c.1521_1556del (ELN)	NP_001265868.1:p.Val508_Gly519del
NM_001278939.2:c.1521_1556del (ELN)	NP_001265868.1:p.Val508_Gly519del
ENST00000252034.11:c.1434_1469del (ELN)	ENSP00000252034.7:p.Val479_Gly490del
ENST00000320399.10:c.1434_1469del (ELN)	ENSP00000313565.6:p.Val479_Gly490del
ENST00000320492.11:c.1191_1226del (ELN)	ENSP00000315607.7:p.Val398_Gly409del
ENST00000357036.9:c.1449_1484del (ELN)	ENSP00000349540.5:p.Val484_Gly495del
ENST00000358929.8:c.1521_1556del (ELN)	ENSP00000351807.5:p.Val508_Gly519del
ENST00000380553.8:c.1026_1061del (ELN)	ENSP00000369926.4:p.Val343_Gly354del
ENST00000380562.8:c.1452_1487del (ELN)	ENSP00000369936.4:p.Val485_Gly496del
ENST00000380575.8:c.1347_1382del (ELN)	ENSP00000369949.4:p.Val450_Gly461del
ENST00000380576.9:c.1377_1412del (ELN)	ENSP00000369950.5:p.Val460_Gly471del
ENST00000380584.8:c.1335_1370del (ELN)	ENSP00000369958.4:p.Val446_Gly457del
ENST00000414324.5:c.1362_1397del (ELN)	ENSP00000392575.1:p.Val455_Gly466del
ENST00000429192.5:c.1392_1427del (ELN)	ENSP00000391129.1:p.Val465_Gly476del
ENST00000445912.5:c.1434_1469del (ELN)	ENSP00000389857.1:p.Val479_Gly490del
ENST00000458204.5:c.1404_1439del (ELN)	ENSP00000403162.1:p.Val469_Gly480del
ENST00000621115.4:c.1167_1202del (ELN)	ENSP00000480955.1:p.Val390_Gly401del
ENST00000692049.1:c.1521_1556del (ELN)	ENSP00000510104.1:p.Val508_Gly519del
XM_005250187.1:c.1398_1433del (ELN)	XP_005250244.1:p.Val467_Gly478del
XM_005250187.2:c.1398_1433del (ELN)	XP_005250244.1:p.Val467_Gly478del
XM_005250188.1:c.1392_1427del (ELN)	XP_005250245.1:p.Val465_Gly476del
XM_005250188.2:c.1392_1427del (ELN)	XP_005250245.1:p.Val465_Gly476del
XM_011515868.1:c.1449_1484del (ELN)	XP_011514170.1:p.Val484_Gly495del
XM_011515868.2:c.1449_1484del (ELN)	XP_011514170.1:p.Val484_Gly495del
XM_011515869.1:c.1419_1454del (ELN)	XP_011514171.1:p.Val474_Gly485del
XM_011515870.1:c.1413_1448del (ELN)	XP_011514172.1:p.Val472_Gly483del
XM_011515871.1:c.1407_1442del (ELN)	XP_011514173.1:p.Val470_Gly481del
XM_011515871.2:c.1407_1442del (ELN)	XP_011514173.1:p.Val470_Gly481del
XM_011515872.1:c.1395_1430del (ELN)	XP_011514174.1:p.Val466_Gly477del
XM_011515872.2:c.1395_1430del (ELN)	XP_011514174.1:p.Val466_Gly477del
XM_011515873.1:c.1392_1427del (ELN)	XP_011514175.1:p.Val465_Gly476del
XM_011515873.2:c.1392_1427del (ELN)	XP_011514175.1:p.Val465_Gly476del
XM_011515874.1:c.1383_1418del (ELN)	XP_011514176.1:p.Val462_Gly473del
XM_011515875.1:c.1368_1403del (ELN)	XP_011514177.1:p.Val457_Gly468del
XM_011515875.2:c.1368_1403del (ELN)	XP_011514177.1:p.Val457_Gly468del
XM_011515876.1:c.1449_1484del (ELN)	XP_011514178.1:p.Val484_Gly495del
XM_011515876.2:c.1449_1484del (ELN)	XP_011514178.1:p.Val484_Gly495del
XM_011515877.1:c.1338_1373del (ELN)	XP_011514179.1:p.Val447_Gly458del
XM_011515877.2:c.1338_1373del (ELN)	XP_011514179.1:p.Val447_Gly458del
XM_017011813.1:c.1362_1397del (ELN)	XP_016867302.1:p.Val455_Gly466del
XM_017011814.2:c.1350_1385del (ELN)	XP_016867303.1:p.Val451_Gly462del
XR_001745243.1:n.180_215del (ELN-AS1)