Canonical Allele Identifier: CA281470
Gene: ELN HGNC NCBI

Linked Data

ClinVar Variation Id: 163386
ClinVar RCV Id: RCV000150635
dbSNP Id: rs727503026

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74048197del , CM000669.2:g.74048197del GRCh38
NC_000007.13:g.73462527del , CM000669.1:g.73462527del GRCh37
NC_000007.12:g.73100463del NCBI36
NG_009261.1:g.25101del

Transcript Alleles

HGVS Amino-acid change
ENST00000692049.1:c.741del ENSP00000510104.1:p.Thr248GlnfsTer?
ENST00000252034.12:c.741del MANE Select ENSP00000252034.7:p.Thr248GlnfsTer?
ENST00000252034.11:c.741del ENSP00000252034.7:p.Thr248GlnfsTer?
ENST00000320399.10:c.741del ENSP00000313565.6:p.Thr248GlnfsTer?
ENST00000320492.11:c.633del ENSP00000315607.7:p.Thr212GlnfsTer?
ENST00000357036.9:c.756del ENSP00000349540.5:p.Thr253GlnfsTer?
ENST00000358929.8:c.741del ENSP00000351807.5:p.Thr248GlnfsTer?
ENST00000380553.8:c.390del ENSP00000369926.4:p.Thr131GlnfsTer?
ENST00000380562.8:c.741del ENSP00000369936.4:p.Thr248GlnfsTer?
ENST00000380575.8:c.711del ENSP00000369949.4:p.Thr238GlnfsTer?
ENST00000380576.9:c.741del ENSP00000369950.5:p.Thr248GlnfsTer?
ENST00000380584.8:c.699del ENSP00000369958.4:p.Thr234GlnfsTer?
ENST00000414324.5:c.726del ENSP00000392575.1:p.Thr243GlnfsTer?
ENST00000417091.5:c.639del ENSP00000411092.1:p.Thr214GlnfsTer?
ENST00000428787.5:c.495del ENSP00000399499.1:p.Thr166GlnfsTer?
ENST00000429192.5:c.756del ENSP00000391129.1:p.Thr253GlnfsTer?
ENST00000438880.5:c.324del ENSP00000389206.1:p.Thr109GlnfsTer?
ENST00000438906.5:c.675del ENSP00000406949.1:p.Thr226GlnfsTer?
ENST00000445912.5:c.741del ENSP00000389857.1:p.Thr248GlnfsTer?
ENST00000458204.5:c.711del ENSP00000403162.1:p.Thr238GlnfsTer?
ENST00000493839.1:n.207del
ENST00000621115.4:c.609del ENSP00000480955.1:p.Thr204GlnfsTer?
NM_000501.3:c.741del NP_000492.2:p.Thr248GlnfsTer?
NM_001081752.2:c.711del NP_001075221.1:p.Thr238GlnfsTer?
NM_001081753.2:c.756del NP_001075222.1:p.Thr253GlnfsTer?
NM_001081754.2:c.756del NP_001075223.1:p.Thr253GlnfsTer?
NM_001081755.2:c.741del NP_001075224.1:p.Thr248GlnfsTer?
NM_001278912.1:c.741del NP_001265841.1:p.Thr248GlnfsTer?
NM_001278913.1:c.633del NP_001265842.1:p.Thr212GlnfsTer?
NM_001278914.1:c.726del NP_001265843.1:p.Thr243GlnfsTer?
NM_001278915.1:c.741del NP_001265844.1:p.Thr248GlnfsTer?
NM_001278916.1:c.699del NP_001265845.1:p.Thr234GlnfsTer?
NM_001278917.1:c.711del NP_001265846.1:p.Thr238GlnfsTer?
NM_001278918.1:c.609del NP_001265847.1:p.Thr204GlnfsTer?
NM_001278939.1:c.741del NP_001265868.1:p.Thr248GlnfsTer?
XM_005250187.1:c.705del XP_005250244.1:p.Thr236GlnfsTer?
XM_005250188.1:c.699del XP_005250245.1:p.Thr234GlnfsTer?
XM_011515868.1:c.756del XP_011514170.1:p.Thr253GlnfsTer?
XM_011515869.1:c.726del XP_011514171.1:p.Thr243GlnfsTer?
XM_011515870.1:c.720del XP_011514172.1:p.Thr241GlnfsTer?
XM_011515871.1:c.714del XP_011514173.1:p.Thr239GlnfsTer?
XM_011515872.1:c.756del XP_011514174.1:p.Thr253GlnfsTer?
XM_011515873.1:c.756del XP_011514175.1:p.Thr253GlnfsTer?
XM_011515874.1:c.690del XP_011514176.1:p.Thr231GlnfsTer?
XM_011515875.1:c.675del XP_011514177.1:p.Thr226GlnfsTer?
XM_011515876.1:c.756del XP_011514178.1:p.Thr253GlnfsTer?
XM_011515877.1:c.756del XP_011514179.1:p.Thr253GlnfsTer?
XM_005250187.2:c.705del XP_005250244.1:p.Thr236GlnfsTer?
XM_005250188.2:c.699del XP_005250245.1:p.Thr234GlnfsTer?
XM_011515868.2:c.756del XP_011514170.1:p.Thr253GlnfsTer?
XM_011515871.2:c.714del XP_011514173.1:p.Thr239GlnfsTer?
XM_011515872.2:c.756del XP_011514174.1:p.Thr253GlnfsTer?
XM_011515873.2:c.756del XP_011514175.1:p.Thr253GlnfsTer?
XM_011515875.2:c.675del XP_011514177.1:p.Thr226GlnfsTer?
XM_011515876.2:c.756del XP_011514178.1:p.Thr253GlnfsTer?
XM_011515877.2:c.756del XP_011514179.1:p.Thr253GlnfsTer?
XM_017011813.1:c.669del XP_016867302.1:p.Thr224GlnfsTer?
XM_017011814.2:c.714del XP_016867303.1:p.Thr239GlnfsTer?
NM_000501.4:c.741del MANE Select NP_000492.2:p.Thr248GlnfsTer?
NM_001081752.3:c.711del NP_001075221.1:p.Thr238GlnfsTer?
NM_001081753.3:c.756del NP_001075222.1:p.Thr253GlnfsTer?
NM_001081754.3:c.756del NP_001075223.1:p.Thr253GlnfsTer?
NM_001081755.3:c.741del NP_001075224.1:p.Thr248GlnfsTer?
NM_001278912.2:c.741del NP_001265841.1:p.Thr248GlnfsTer?
NM_001278913.2:c.633del NP_001265842.1:p.Thr212GlnfsTer?
NM_001278914.2:c.726del NP_001265843.1:p.Thr243GlnfsTer?
NM_001278915.2:c.741del NP_001265844.1:p.Thr248GlnfsTer?
NM_001278916.2:c.699del NP_001265845.1:p.Thr234GlnfsTer?
NM_001278917.2:c.711del NP_001265846.1:p.Thr238GlnfsTer?
NM_001278918.2:c.609del NP_001265847.1:p.Thr204GlnfsTer?
NM_001278939.2:c.741del NP_001265868.1:p.Thr248GlnfsTer?