Canonical Allele Identifier: CA281472
Gene: ELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74051812dup , CM000669.2:g.74051812dup GRCh38
NC_000007.13:g.73466142dup , CM000669.1:g.73466142dup GRCh37
NC_000007.12:g.73104078dup NCBI36
NG_009261.1:g.28716dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000692049.1:c.862dup ENSP00000510104.1:p.Ala288GlyfsTer25
ENST00000252034.12:c.862dup MANE Select ENSP00000252034.7:p.Ala288GlyfsTer25
ENST00000252034.11:c.862dup ENSP00000252034.7:p.Ala288GlyfsTer25
ENST00000320399.10:c.862dup ENSP00000313565.6:p.Ala288GlyfsTer25
ENST00000320492.11:c.754dup ENSP00000315607.7:p.Ala252GlyfsTer25
ENST00000357036.9:c.877dup ENSP00000349540.5:p.Ala293GlyfsTer25
ENST00000358929.8:c.862dup ENSP00000351807.5:p.Ala288GlyfsTer25
ENST00000380553.8:c.511dup ENSP00000369926.4:p.Ala171GlyfsTer25
ENST00000380562.8:c.862dup ENSP00000369936.4:p.Ala288GlyfsTer25
ENST00000380575.8:c.832dup ENSP00000369949.4:p.Ala278GlyfsTer25
ENST00000380576.9:c.862dup ENSP00000369950.5:p.Ala288GlyfsTer25
ENST00000380584.8:c.820dup ENSP00000369958.4:p.Ala274GlyfsTer25
ENST00000414324.5:c.847dup ENSP00000392575.1:p.Ala283GlyfsTer25
ENST00000429192.5:c.877dup ENSP00000391129.1:p.Ala293GlyfsTer25
ENST00000438880.5:c.445dup ENSP00000389206.1:p.Ala149GlyfsTer?
ENST00000438906.5:c.796dup ENSP00000406949.1:p.Ala266GlyfsTer25
ENST00000445912.5:c.862dup ENSP00000389857.1:p.Ala288GlyfsTer25
ENST00000458204.5:c.832dup ENSP00000403162.1:p.Ala278GlyfsTer25
ENST00000493839.1:n.328dup
ENST00000621115.4:c.730dup ENSP00000480955.1:p.Ala244GlyfsTer25
NM_000501.3:c.862dup NP_000492.2:p.Ala288GlyfsTer25
NM_001081752.2:c.832dup NP_001075221.1:p.Ala278GlyfsTer25
NM_001081753.2:c.877dup NP_001075222.1:p.Ala293GlyfsTer25
NM_001081754.2:c.877dup NP_001075223.1:p.Ala293GlyfsTer25
NM_001081755.2:c.862dup NP_001075224.1:p.Ala288GlyfsTer25
NM_001278912.1:c.862dup NP_001265841.1:p.Ala288GlyfsTer25
NM_001278913.1:c.754dup NP_001265842.1:p.Ala252GlyfsTer25
NM_001278914.1:c.847dup NP_001265843.1:p.Ala283GlyfsTer25
NM_001278915.1:c.862dup NP_001265844.1:p.Ala288GlyfsTer25
NM_001278916.1:c.820dup NP_001265845.1:p.Ala274GlyfsTer25
NM_001278917.1:c.832dup NP_001265846.1:p.Ala278GlyfsTer25
NM_001278918.1:c.730dup NP_001265847.1:p.Ala244GlyfsTer25
NM_001278939.1:c.862dup NP_001265868.1:p.Ala288GlyfsTer25
XM_005250187.1:c.826dup XP_005250244.1:p.Ala276GlyfsTer25
XM_005250188.1:c.820dup XP_005250245.1:p.Ala274GlyfsTer25
XM_011515868.1:c.877dup XP_011514170.1:p.Ala293GlyfsTer25
XM_011515869.1:c.847dup XP_011514171.1:p.Ala283GlyfsTer25
XM_011515870.1:c.841dup XP_011514172.1:p.Ala281GlyfsTer25
XM_011515871.1:c.835dup XP_011514173.1:p.Ala279GlyfsTer25
XM_011515872.1:c.877dup XP_011514174.1:p.Ala293GlyfsTer25
XM_011515873.1:c.877dup XP_011514175.1:p.Ala293GlyfsTer25
XM_011515874.1:c.811dup XP_011514176.1:p.Ala271GlyfsTer25
XM_011515875.1:c.796dup XP_011514177.1:p.Ala266GlyfsTer25
XM_011515876.1:c.877dup XP_011514178.1:p.Ala293GlyfsTer25
XM_011515877.1:c.877dup XP_011514179.1:p.Ala293GlyfsTer25
XM_005250187.2:c.826dup XP_005250244.1:p.Ala276GlyfsTer25
XM_005250188.2:c.820dup XP_005250245.1:p.Ala274GlyfsTer25
XM_011515868.2:c.877dup XP_011514170.1:p.Ala293GlyfsTer25
XM_011515871.2:c.835dup XP_011514173.1:p.Ala279GlyfsTer25
XM_011515872.2:c.877dup XP_011514174.1:p.Ala293GlyfsTer25
XM_011515873.2:c.877dup XP_011514175.1:p.Ala293GlyfsTer25
XM_011515875.2:c.796dup XP_011514177.1:p.Ala266GlyfsTer25
XM_011515876.2:c.877dup XP_011514178.1:p.Ala293GlyfsTer25
XM_011515877.2:c.877dup XP_011514179.1:p.Ala293GlyfsTer25
XM_017011813.1:c.790dup XP_016867302.1:p.Ala264GlyfsTer25
XM_017011814.2:c.835dup XP_016867303.1:p.Ala279GlyfsTer25
NM_000501.4:c.862dup MANE Select NP_000492.2:p.Ala288GlyfsTer25
NM_001081752.3:c.832dup NP_001075221.1:p.Ala278GlyfsTer25
NM_001081753.3:c.877dup NP_001075222.1:p.Ala293GlyfsTer25
NM_001081754.3:c.877dup NP_001075223.1:p.Ala293GlyfsTer25
NM_001081755.3:c.862dup NP_001075224.1:p.Ala288GlyfsTer25
NM_001278912.2:c.862dup NP_001265841.1:p.Ala288GlyfsTer25
NM_001278913.2:c.754dup NP_001265842.1:p.Ala252GlyfsTer25
NM_001278914.2:c.847dup NP_001265843.1:p.Ala283GlyfsTer25
NM_001278915.2:c.862dup NP_001265844.1:p.Ala288GlyfsTer25
NM_001278916.2:c.820dup NP_001265845.1:p.Ala274GlyfsTer25
NM_001278917.2:c.832dup NP_001265846.1:p.Ala278GlyfsTer25
NM_001278918.2:c.730dup NP_001265847.1:p.Ala244GlyfsTer25
NM_001278939.2:c.862dup NP_001265868.1:p.Ala288GlyfsTer25