Canonical Allele Identifier: CA281486
Gene: ELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74046732del , CM000669.2:g.74046732del GRCh38
NC_000007.13:g.73461062del , CM000669.1:g.73461062del GRCh37
NC_000007.12:g.73098998del NCBI36
NG_009261.1:g.23636del

Transcript Alleles

HGVS Amino-acid Change
ENST00000692049.1:c.608del ENSP00000510104.1:p.Pro203HisfsTer?
ENST00000252034.12:c.608del MANE Select ENSP00000252034.7:p.Pro203HisfsTer?
ENST00000252034.11:c.608del ENSP00000252034.7:p.Pro203HisfsTer?
ENST00000320399.10:c.608del ENSP00000313565.6:p.Pro203HisfsTer?
ENST00000320492.11:c.542del ENSP00000315607.7:p.Pro181HisfsTer?
ENST00000357036.9:c.623del ENSP00000349540.5:p.Pro208HisfsTer?
ENST00000358929.8:c.608del ENSP00000351807.5:p.Pro203HisfsTer?
ENST00000380553.8:c.299del ENSP00000369926.4:p.Pro100HisfsTer?
ENST00000380562.8:c.608del ENSP00000369936.4:p.Pro203HisfsTer?
ENST00000380575.8:c.578del ENSP00000369949.4:p.Pro193HisfsTer?
ENST00000380576.9:c.608del ENSP00000369950.5:p.Pro203HisfsTer?
ENST00000380584.8:c.608del ENSP00000369958.4:p.Pro203HisfsTer?
ENST00000414324.5:c.593del ENSP00000392575.1:p.Pro198HisfsTer?
ENST00000417091.5:c.506del ENSP00000411092.1:p.Pro169HisfsTer?
ENST00000428787.5:c.362del ENSP00000399499.1:p.Pro121HisfsTer?
ENST00000429192.5:c.623del ENSP00000391129.1:p.Pro208HisfsTer?
ENST00000438880.5:c.233del ENSP00000389206.1:p.Pro78HisfsTer?
ENST00000438906.5:c.542del ENSP00000406949.1:p.Pro181HisfsTer?
ENST00000442310.5:c.494del ENSP00000403961.1:p.Pro165HisfsTer?
ENST00000445912.5:c.608del ENSP00000389857.1:p.Pro203HisfsTer?
ENST00000458204.5:c.578del ENSP00000403162.1:p.Pro193HisfsTer?
ENST00000477397.1:n.492del
ENST00000493839.1:n.74del
ENST00000621115.4:c.476del ENSP00000480955.1:p.Pro159HisfsTer?
NM_000501.3:c.608del NP_000492.2:p.Pro203HisfsTer?
NM_001081752.2:c.578del NP_001075221.1:p.Pro193HisfsTer?
NM_001081753.2:c.623del NP_001075222.1:p.Pro208HisfsTer?
NM_001081754.2:c.623del NP_001075223.1:p.Pro208HisfsTer?
NM_001081755.2:c.608del NP_001075224.1:p.Pro203HisfsTer?
NM_001278912.1:c.608del NP_001265841.1:p.Pro203HisfsTer?
NM_001278913.1:c.542del NP_001265842.1:p.Pro181HisfsTer?
NM_001278914.1:c.593del NP_001265843.1:p.Pro198HisfsTer?
NM_001278915.1:c.608del NP_001265844.1:p.Pro203HisfsTer?
NM_001278916.1:c.608del NP_001265845.1:p.Pro203HisfsTer?
NM_001278917.1:c.578del NP_001265846.1:p.Pro193HisfsTer?
NM_001278918.1:c.476del NP_001265847.1:p.Pro159HisfsTer?
NM_001278939.1:c.608del NP_001265868.1:p.Pro203HisfsTer?
XM_005250187.1:c.572del XP_005250244.1:p.Pro191HisfsTer?
XM_005250188.1:c.608del XP_005250245.1:p.Pro203HisfsTer?
XM_011515868.1:c.623del XP_011514170.1:p.Pro208HisfsTer?
XM_011515869.1:c.593del XP_011514171.1:p.Pro198HisfsTer?
XM_011515870.1:c.587del XP_011514172.1:p.Pro196HisfsTer?
XM_011515871.1:c.623del XP_011514173.1:p.Pro208HisfsTer?
XM_011515872.1:c.623del XP_011514174.1:p.Pro208HisfsTer?
XM_011515873.1:c.623del XP_011514175.1:p.Pro208HisfsTer?
XM_011515874.1:c.557del XP_011514176.1:p.Pro186HisfsTer?
XM_011515875.1:c.542del XP_011514177.1:p.Pro181HisfsTer?
XM_011515876.1:c.623del XP_011514178.1:p.Pro208HisfsTer?
XM_011515877.1:c.623del XP_011514179.1:p.Pro208HisfsTer?
XM_005250187.2:c.572del XP_005250244.1:p.Pro191HisfsTer?
XM_005250188.2:c.608del XP_005250245.1:p.Pro203HisfsTer?
XM_011515868.2:c.623del XP_011514170.1:p.Pro208HisfsTer?
XM_011515871.2:c.623del XP_011514173.1:p.Pro208HisfsTer?
XM_011515872.2:c.623del XP_011514174.1:p.Pro208HisfsTer?
XM_011515873.2:c.623del XP_011514175.1:p.Pro208HisfsTer?
XM_011515875.2:c.542del XP_011514177.1:p.Pro181HisfsTer?
XM_011515876.2:c.623del XP_011514178.1:p.Pro208HisfsTer?
XM_011515877.2:c.623del XP_011514179.1:p.Pro208HisfsTer?
XM_017011813.1:c.578del XP_016867302.1:p.Pro193HisfsTer?
XM_017011814.2:c.623del XP_016867303.1:p.Pro208HisfsTer?
NM_000501.4:c.608del MANE Select NP_000492.2:p.Pro203HisfsTer?
NM_001081752.3:c.578del NP_001075221.1:p.Pro193HisfsTer?
NM_001081753.3:c.623del NP_001075222.1:p.Pro208HisfsTer?
NM_001081754.3:c.623del NP_001075223.1:p.Pro208HisfsTer?
NM_001081755.3:c.608del NP_001075224.1:p.Pro203HisfsTer?
NM_001278912.2:c.608del NP_001265841.1:p.Pro203HisfsTer?
NM_001278913.2:c.542del NP_001265842.1:p.Pro181HisfsTer?
NM_001278914.2:c.593del NP_001265843.1:p.Pro198HisfsTer?
NM_001278915.2:c.608del NP_001265844.1:p.Pro203HisfsTer?
NM_001278916.2:c.608del NP_001265845.1:p.Pro203HisfsTer?
NM_001278917.2:c.578del NP_001265846.1:p.Pro193HisfsTer?
NM_001278918.2:c.476del NP_001265847.1:p.Pro159HisfsTer?
NM_001278939.2:c.608del NP_001265868.1:p.Pro203HisfsTer?