Canonical Allele Identifier: CA275465
Gene: ELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74068686del , CM000669.2:g.74068686del GRCh38
NC_000007.13:g.73483016del , CM000669.1:g.73483016del GRCh37
NC_000007.12:g.73120952del NCBI36
NG_009261.1:g.45590del

Transcript Alleles

HGVS Amino-acid Change
ENST00000692049.1:c.2347del ENSP00000510104.1:p.Arg783GlyfsTer?
ENST00000252034.12:c.2161del MANE Select ENSP00000252034.7:p.Arg721GlyfsTer30
ENST00000252034.11:c.2161del ENSP00000252034.7:p.Arg721GlyfsTer30
ENST00000320399.10:c.2260del ENSP00000313565.6:p.Arg754GlyfsTer?
ENST00000320492.11:c.1918del ENSP00000315607.7:p.Arg640GlyfsTer30
ENST00000357036.9:c.2122del ENSP00000349540.5:p.Arg708GlyfsTer30
ENST00000358929.8:c.2347del ENSP00000351807.5:p.Arg783GlyfsTer30
ENST00000380553.8:c.1699del ENSP00000369926.4:p.Arg567GlyfsTer30
ENST00000380562.8:c.2179del ENSP00000369936.4:p.Arg727GlyfsTer?
ENST00000380575.8:c.2020del ENSP00000369949.4:p.Arg674GlyfsTer30
ENST00000380576.9:c.2104del ENSP00000369950.5:p.Arg702GlyfsTer30
ENST00000380584.8:c.1963del ENSP00000369958.4:p.Arg655GlyfsTer30
ENST00000414324.5:c.2089del ENSP00000392575.1:p.Arg697GlyfsTer30
ENST00000429192.5:c.2065del ENSP00000391129.1:p.Arg689GlyfsTer30
ENST00000445912.5:c.2107del ENSP00000389857.1:p.Arg703GlyfsTer?
ENST00000458204.5:c.2131del ENSP00000403162.1:p.Arg711GlyfsTer30
ENST00000621115.4:c.1840del ENSP00000480955.1:p.Arg614GlyfsTer30
NM_000501.3:c.2161del NP_000492.2:p.Arg721GlyfsTer30
NM_001081752.2:c.2020del NP_001075221.1:p.Arg674GlyfsTer30
NM_001081753.2:c.2065del NP_001075222.1:p.Arg689GlyfsTer30
NM_001081754.2:c.2122del NP_001075223.1:p.Arg708GlyfsTer30
NM_001081755.2:c.2104del NP_001075224.1:p.Arg702GlyfsTer30
NM_001278912.1:c.2107del NP_001265841.1:p.Arg703GlyfsTer30
NM_001278913.1:c.1918del NP_001265842.1:p.Arg640GlyfsTer30
NM_001278914.1:c.2089del NP_001265843.1:p.Arg697GlyfsTer30
NM_001278915.1:c.2179del NP_001265844.1:p.Arg727GlyfsTer30
NM_001278916.1:c.1963del NP_001265845.1:p.Arg655GlyfsTer30
NM_001278917.1:c.2131del NP_001265846.1:p.Arg711GlyfsTer30
NM_001278918.1:c.1840del NP_001265847.1:p.Arg614GlyfsTer30
NM_001278939.1:c.2347del NP_001265868.1:p.Arg783GlyfsTer30
XM_005250187.1:c.2125del XP_005250244.1:p.Arg709GlyfsTer30
XM_005250188.1:c.2119del XP_005250245.1:p.Arg707GlyfsTer30
XM_011515868.1:c.2176del XP_011514170.1:p.Arg726GlyfsTer30
XM_011515869.1:c.2146del XP_011514171.1:p.Arg716GlyfsTer30
XM_011515870.1:c.2140del XP_011514172.1:p.Arg714GlyfsTer30
XM_011515871.1:c.2134del XP_011514173.1:p.Arg712GlyfsTer30
XM_011515872.1:c.2122del XP_011514174.1:p.Arg708GlyfsTer30
XM_011515873.1:c.2119del XP_011514175.1:p.Arg707GlyfsTer30
XM_011515874.1:c.2110del XP_011514176.1:p.Arg704GlyfsTer30
XM_011515875.1:c.2095del XP_011514177.1:p.Arg699GlyfsTer30
XM_011515876.1:c.2077del XP_011514178.1:p.Arg693GlyfsTer30
XM_011515877.1:c.2065del XP_011514179.1:p.Arg689GlyfsTer30
XM_005250187.2:c.2125del XP_005250244.1:p.Arg709GlyfsTer30
XM_005250188.2:c.2119del XP_005250245.1:p.Arg707GlyfsTer30
XM_011515868.2:c.2176del XP_011514170.1:p.Arg726GlyfsTer30
XM_011515871.2:c.2134del XP_011514173.1:p.Arg712GlyfsTer30
XM_011515872.2:c.2122del XP_011514174.1:p.Arg708GlyfsTer30
XM_011515873.2:c.2119del XP_011514175.1:p.Arg707GlyfsTer30
XM_011515875.2:c.2095del XP_011514177.1:p.Arg699GlyfsTer30
XM_011515876.2:c.2077del XP_011514178.1:p.Arg693GlyfsTer30
XM_011515877.2:c.2065del XP_011514179.1:p.Arg689GlyfsTer30
XM_017011813.1:c.2089del XP_016867302.1:p.Arg697GlyfsTer30
XM_017011814.2:c.2077del XP_016867303.1:p.Arg693GlyfsTer30
NM_000501.4:c.2161del MANE Select NP_000492.2:p.Arg721GlyfsTer30
NM_001081752.3:c.2020del NP_001075221.1:p.Arg674GlyfsTer30
NM_001081753.3:c.2065del NP_001075222.1:p.Arg689GlyfsTer30
NM_001081754.3:c.2122del NP_001075223.1:p.Arg708GlyfsTer30
NM_001081755.3:c.2104del NP_001075224.1:p.Arg702GlyfsTer30
NM_001278912.2:c.2107del NP_001265841.1:p.Arg703GlyfsTer30
NM_001278913.2:c.1918del NP_001265842.1:p.Arg640GlyfsTer30
NM_001278914.2:c.2089del NP_001265843.1:p.Arg697GlyfsTer30
NM_001278915.2:c.2179del NP_001265844.1:p.Arg727GlyfsTer30
NM_001278916.2:c.1963del NP_001265845.1:p.Arg655GlyfsTer30
NM_001278917.2:c.2131del NP_001265846.1:p.Arg711GlyfsTer30
NM_001278918.2:c.1840del NP_001265847.1:p.Arg614GlyfsTer30
NM_001278939.2:c.2347del NP_001265868.1:p.Arg783GlyfsTer30