Canonical Allele Identifier: CA4293061

Gene: ELN ELN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74059924_74059959del , CM000669.2:g.74059924_74059959del	GRCh38
NC_000007.13:g.73474254_73474289del , CM000669.1:g.73474254_73474289del	GRCh37
NC_000007.12:g.73112190_73112225del	NCBI36
NG_009261.1:g.36828_36863del

Transcript Alleles

HGVS	Amino-acid Change
NM_000501.4:c.1453_1488del (ELN) MANE Select	NP_000492.2:p.Val485_Gly496del
ENST00000252034.12:c.1453_1488del (ELN) MANE Select	ENSP00000252034.7:p.Val485_Gly496del
NM_000501.3:c.1453_1488del (ELN)	NP_000492.2:p.Val485_Gly496del
NM_001081752.2:c.1366_1401del (ELN)	NP_001075221.1:p.Val456_Gly467del
NM_001081752.3:c.1366_1401del (ELN)	NP_001075221.1:p.Val456_Gly467del
NM_001081753.2:c.1411_1446del (ELN)	NP_001075222.1:p.Val471_Gly482del
NM_001081753.3:c.1411_1446del (ELN)	NP_001075222.1:p.Val471_Gly482del
NM_001081754.2:c.1468_1503del (ELN)	NP_001075223.1:p.Val490_Gly501del
NM_001081754.3:c.1468_1503del (ELN)	NP_001075223.1:p.Val490_Gly501del
NM_001081755.2:c.1396_1431del (ELN)	NP_001075224.1:p.Val466_Gly477del
NM_001081755.3:c.1396_1431del (ELN)	NP_001075224.1:p.Val466_Gly477del
NM_001278912.1:c.1453_1488del (ELN)	NP_001265841.1:p.Val485_Gly496del
NM_001278912.2:c.1453_1488del (ELN)	NP_001265841.1:p.Val485_Gly496del
NM_001278913.1:c.1210_1245del (ELN)	NP_001265842.1:p.Val404_Gly415del
NM_001278913.2:c.1210_1245del (ELN)	NP_001265842.1:p.Val404_Gly415del
NM_001278914.1:c.1381_1416del (ELN)	NP_001265843.1:p.Val461_Gly472del
NM_001278914.2:c.1381_1416del (ELN)	NP_001265843.1:p.Val461_Gly472del
NM_001278915.1:c.1471_1506del (ELN)	NP_001265844.1:p.Val491_Gly502del
NM_001278915.2:c.1471_1506del (ELN)	NP_001265844.1:p.Val491_Gly502del
NM_001278916.1:c.1354_1389del (ELN)	NP_001265845.1:p.Val452_Gly463del
NM_001278916.2:c.1354_1389del (ELN)	NP_001265845.1:p.Val452_Gly463del
NM_001278917.1:c.1423_1458del (ELN)	NP_001265846.1:p.Val475_Gly486del
NM_001278917.2:c.1423_1458del (ELN)	NP_001265846.1:p.Val475_Gly486del
NM_001278918.1:c.1186_1221del (ELN)	NP_001265847.1:p.Val396_Gly407del
NM_001278918.2:c.1186_1221del (ELN)	NP_001265847.1:p.Val396_Gly407del
NM_001278939.1:c.1540_1575del (ELN)	NP_001265868.1:p.Val514_Gly525del
NM_001278939.2:c.1540_1575del (ELN)	NP_001265868.1:p.Val514_Gly525del
ENST00000252034.11:c.1453_1488del (ELN)	ENSP00000252034.7:p.Val485_Gly496del
ENST00000320399.10:c.1453_1488del (ELN)	ENSP00000313565.6:p.Val485_Gly496del
ENST00000320492.11:c.1210_1245del (ELN)	ENSP00000315607.7:p.Val404_Gly415del
ENST00000357036.9:c.1468_1503del (ELN)	ENSP00000349540.5:p.Val490_Gly501del
ENST00000358929.8:c.1540_1575del (ELN)	ENSP00000351807.5:p.Val514_Gly525del
ENST00000380553.8:c.1045_1080del (ELN)	ENSP00000369926.4:p.Val349_Gly360del
ENST00000380562.8:c.1471_1506del (ELN)	ENSP00000369936.4:p.Val491_Gly502del
ENST00000380575.8:c.1366_1401del (ELN)	ENSP00000369949.4:p.Val456_Gly467del
ENST00000380576.9:c.1396_1431del (ELN)	ENSP00000369950.5:p.Val466_Gly477del
ENST00000380584.8:c.1354_1389del (ELN)	ENSP00000369958.4:p.Val452_Gly463del
ENST00000414324.5:c.1381_1416del (ELN)	ENSP00000392575.1:p.Val461_Gly472del
ENST00000429192.5:c.1411_1446del (ELN)	ENSP00000391129.1:p.Val471_Gly482del
ENST00000445912.5:c.1453_1488del (ELN)	ENSP00000389857.1:p.Val485_Gly496del
ENST00000458204.5:c.1423_1458del (ELN)	ENSP00000403162.1:p.Val475_Gly486del
ENST00000621115.4:c.1186_1221del (ELN)	ENSP00000480955.1:p.Val396_Gly407del
ENST00000692049.1:c.1540_1575del (ELN)	ENSP00000510104.1:p.Val514_Gly525del
XM_005250187.1:c.1417_1452del (ELN)	XP_005250244.1:p.Val473_Gly484del
XM_005250187.2:c.1417_1452del (ELN)	XP_005250244.1:p.Val473_Gly484del
XM_005250188.1:c.1411_1446del (ELN)	XP_005250245.1:p.Val471_Gly482del
XM_005250188.2:c.1411_1446del (ELN)	XP_005250245.1:p.Val471_Gly482del
XM_011515868.1:c.1468_1503del (ELN)	XP_011514170.1:p.Val490_Gly501del
XM_011515868.2:c.1468_1503del (ELN)	XP_011514170.1:p.Val490_Gly501del
XM_011515869.1:c.1438_1473del (ELN)	XP_011514171.1:p.Val480_Gly491del
XM_011515870.1:c.1432_1467del (ELN)	XP_011514172.1:p.Val478_Gly489del
XM_011515871.1:c.1426_1461del (ELN)	XP_011514173.1:p.Val476_Gly487del
XM_011515871.2:c.1426_1461del (ELN)	XP_011514173.1:p.Val476_Gly487del
XM_011515872.1:c.1414_1449del (ELN)	XP_011514174.1:p.Val472_Gly483del
XM_011515872.2:c.1414_1449del (ELN)	XP_011514174.1:p.Val472_Gly483del
XM_011515873.1:c.1411_1446del (ELN)	XP_011514175.1:p.Val471_Gly482del
XM_011515873.2:c.1411_1446del (ELN)	XP_011514175.1:p.Val471_Gly482del
XM_011515874.1:c.1402_1437del (ELN)	XP_011514176.1:p.Val468_Gly479del
XM_011515875.1:c.1387_1422del (ELN)	XP_011514177.1:p.Val463_Gly474del
XM_011515875.2:c.1387_1422del (ELN)	XP_011514177.1:p.Val463_Gly474del
XM_011515876.1:c.1468_1503del (ELN)	XP_011514178.1:p.Val490_Gly501del
XM_011515876.2:c.1468_1503del (ELN)	XP_011514178.1:p.Val490_Gly501del
XM_011515877.1:c.1357_1392del (ELN)	XP_011514179.1:p.Val453_Gly464del
XM_011515877.2:c.1357_1392del (ELN)	XP_011514179.1:p.Val453_Gly464del
XM_017011813.1:c.1381_1416del (ELN)	XP_016867302.1:p.Val461_Gly472del
XM_017011814.2:c.1369_1404del (ELN)	XP_016867303.1:p.Val457_Gly468del
XR_001745243.1:n.167_202del (ELN-AS1)