Canonical Allele Identifier: CA281484
Gene: ELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74056328del , CM000669.2:g.74056328del GRCh38
NC_000007.13:g.73470658del , CM000669.1:g.73470658del GRCh37
NC_000007.12:g.73108594del NCBI36
NG_009261.1:g.33232del

Transcript Alleles

HGVS Amino-acid Change
ENST00000692049.1:c.1208del ENSP00000510104.1:p.Gly403AlafsTer?
ENST00000252034.12:c.1208del MANE Select ENSP00000252034.7:p.Gly403AlafsTer?
ENST00000252034.11:c.1208del ENSP00000252034.7:p.Gly403AlafsTer?
ENST00000320399.10:c.1208del ENSP00000313565.6:p.Gly403AlafsTer?
ENST00000320492.11:c.1100del ENSP00000315607.7:p.Gly367AlafsTer26
ENST00000357036.9:c.1223del ENSP00000349540.5:p.Gly408AlafsTer?
ENST00000358929.8:c.1208del ENSP00000351807.5:p.Gly403AlafsTer?
ENST00000380553.8:c.857del ENSP00000369926.4:p.Gly286AlafsTer?
ENST00000380562.8:c.1208del ENSP00000369936.4:p.Gly403AlafsTer?
ENST00000380575.8:c.1178del ENSP00000369949.4:p.Gly393AlafsTer?
ENST00000380576.9:c.1208del ENSP00000369950.5:p.Gly403AlafsTer?
ENST00000380584.8:c.1166del ENSP00000369958.4:p.Gly389AlafsTer?
ENST00000414324.5:c.1193del ENSP00000392575.1:p.Gly398AlafsTer?
ENST00000429192.5:c.1223del ENSP00000391129.1:p.Gly408AlafsTer?
ENST00000445912.5:c.1208del ENSP00000389857.1:p.Gly403AlafsTer?
ENST00000458204.5:c.1178del ENSP00000403162.1:p.Gly393AlafsTer?
ENST00000466878.5:n.527del
ENST00000492210.1:n.571del
ENST00000621115.4:c.1076del ENSP00000480955.1:p.Gly359AlafsTer26
NM_000501.3:c.1208del NP_000492.2:p.Gly403AlafsTer?
NM_001081752.2:c.1178del NP_001075221.1:p.Gly393AlafsTer?
NM_001081753.2:c.1223del NP_001075222.1:p.Gly408AlafsTer?
NM_001081754.2:c.1223del NP_001075223.1:p.Gly408AlafsTer?
NM_001081755.2:c.1208del NP_001075224.1:p.Gly403AlafsTer?
NM_001278912.1:c.1208del NP_001265841.1:p.Gly403AlafsTer?
NM_001278913.1:c.1100del NP_001265842.1:p.Gly367AlafsTer26
NM_001278914.1:c.1193del NP_001265843.1:p.Gly398AlafsTer?
NM_001278915.1:c.1208del NP_001265844.1:p.Gly403AlafsTer?
NM_001278916.1:c.1166del NP_001265845.1:p.Gly389AlafsTer?
NM_001278917.1:c.1178del NP_001265846.1:p.Gly393AlafsTer?
NM_001278918.1:c.1076del NP_001265847.1:p.Gly359AlafsTer26
NM_001278939.1:c.1208del NP_001265868.1:p.Gly403AlafsTer?
XM_005250187.1:c.1172del XP_005250244.1:p.Gly391AlafsTer?
XM_005250188.1:c.1166del XP_005250245.1:p.Gly389AlafsTer?
XM_011515868.1:c.1223del XP_011514170.1:p.Gly408AlafsTer?
XM_011515869.1:c.1193del XP_011514171.1:p.Gly398AlafsTer?
XM_011515870.1:c.1187del XP_011514172.1:p.Gly396AlafsTer?
XM_011515871.1:c.1181del XP_011514173.1:p.Gly394AlafsTer?
XM_011515872.1:c.1169del XP_011514174.1:p.Gly390AlafsTer?
XM_011515873.1:c.1223del XP_011514175.1:p.Gly408AlafsTer?
XM_011515874.1:c.1157del XP_011514176.1:p.Gly386AlafsTer?
XM_011515875.1:c.1142del XP_011514177.1:p.Gly381AlafsTer?
XM_011515876.1:c.1223del XP_011514178.1:p.Gly408AlafsTer?
XM_011515877.1:c.1169del XP_011514179.1:p.Gly390AlafsTer?
XM_005250187.2:c.1172del XP_005250244.1:p.Gly391AlafsTer?
XM_005250188.2:c.1166del XP_005250245.1:p.Gly389AlafsTer?
XM_011515868.2:c.1223del XP_011514170.1:p.Gly408AlafsTer?
XM_011515871.2:c.1181del XP_011514173.1:p.Gly394AlafsTer?
XM_011515872.2:c.1169del XP_011514174.1:p.Gly390AlafsTer?
XM_011515873.2:c.1223del XP_011514175.1:p.Gly408AlafsTer?
XM_011515875.2:c.1142del XP_011514177.1:p.Gly381AlafsTer?
XM_011515876.2:c.1223del XP_011514178.1:p.Gly408AlafsTer?
XM_011515877.2:c.1169del XP_011514179.1:p.Gly390AlafsTer?
XM_017011813.1:c.1136del XP_016867302.1:p.Gly379AlafsTer?
XM_017011814.2:c.1181del XP_016867303.1:p.Gly394AlafsTer?
NM_000501.4:c.1208del MANE Select NP_000492.2:p.Gly403AlafsTer?
NM_001081752.3:c.1178del NP_001075221.1:p.Gly393AlafsTer?
NM_001081753.3:c.1223del NP_001075222.1:p.Gly408AlafsTer?
NM_001081754.3:c.1223del NP_001075223.1:p.Gly408AlafsTer?
NM_001081755.3:c.1208del NP_001075224.1:p.Gly403AlafsTer?
NM_001278912.2:c.1208del NP_001265841.1:p.Gly403AlafsTer?
NM_001278913.2:c.1100del NP_001265842.1:p.Gly367AlafsTer26
NM_001278914.2:c.1193del NP_001265843.1:p.Gly398AlafsTer?
NM_001278915.2:c.1208del NP_001265844.1:p.Gly403AlafsTer?
NM_001278916.2:c.1166del NP_001265845.1:p.Gly389AlafsTer?
NM_001278917.2:c.1178del NP_001265846.1:p.Gly393AlafsTer?
NM_001278918.2:c.1076del NP_001265847.1:p.Gly359AlafsTer26
NM_001278939.2:c.1208del NP_001265868.1:p.Gly403AlafsTer?