Canonical Allele Identifier: CA2636193342
Gene: ELAC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12992956_12992969dup , CM000679.2:g.12992956_12992969dup GRCh38
NC_000017.10:g.12896273_12896286dup , CM000679.1:g.12896273_12896286dup GRCh37
NC_000017.9:g.12836998_12837011dup NCBI36
NG_015808.1:g.30098_30111dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.2332_2345dup MANE Select ENSP00000337445.4:p.Glu783TrpfsTer?
ENST00000338034.8:c.2332_2345dup ENSP00000337445.4:p.Glu783TrpfsTer?
ENST00000395962.6:c.2275_2288dup ENSP00000379291.1:p.Glu764TrpfsTer?
ENST00000426905.7:c.2212_2225dup ENSP00000405223.3:p.Glu743TrpfsTer?
ENST00000465825.5:n.2219_2232dup
ENST00000480891.5:n.2161_2174dup
ENST00000484122.5:n.3162_3175dup
ENST00000487229.6:n.1878_1891dup
ENST00000584650.5:c.1731_1744dup
NM_001165962.1:c.2212_2225dup NP_001159434.1:p.Glu743TrpfsTer?
NM_018127.6:c.2332_2345dup NP_060597.4:p.Glu783TrpfsTer?
NM_173717.1:c.2329_2342dup NP_776065.1:p.Glu782TrpfsTer?
XM_024450850.1:c.2491_2504dup XP_024306618.1:p.Glu836TrpfsTer?
XM_024450851.1:c.2413_2426dup XP_024306619.1:p.Glu810TrpfsTer?
XM_024450852.1:c.2410_2423dup XP_024306620.1:p.Glu809TrpfsTer?
XM_024450853.1:c.2407_2420dup XP_024306621.1:p.Glu808TrpfsTer?
XM_024450854.1:c.2371_2384dup XP_024306622.1:p.Glu796TrpfsTer?
XM_024450855.1:c.2290_2303dup XP_024306623.1:p.Glu769TrpfsTer?
XM_024450856.1:c.2209_2222dup XP_024306624.1:p.Glu742TrpfsTer?
XM_024450857.1:c.2209_2222dup XP_024306625.1:p.Glu742TrpfsTer?
XM_024450858.1:c.2128_2141dup XP_024306626.1:p.Glu715TrpfsTer?
XM_024450859.1:c.2125_2138dup XP_024306627.1:p.Glu714TrpfsTer?
XM_024450860.1:c.2050_2063dup XP_024306628.1:p.Glu689TrpfsTer?
XM_024450861.1:c.2050_2063dup XP_024306629.1:p.Glu689TrpfsTer?
XM_024450862.1:c.2047_2060dup XP_024306630.1:p.Glu688TrpfsTer?
NM_018127.7:c.2332_2345dup MANE Select NP_060597.4:p.Glu783TrpfsTer?
NM_001165962.2:c.2212_2225dup NP_001159434.1:p.Glu743TrpfsTer?
NM_173717.2:c.2329_2342dup NP_776065.1:p.Glu782TrpfsTer?