Canonical Allele Identifier: CA117234
Gene: ELAC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12996565dup , CM000679.2:g.12996565dup GRCh38
NC_000017.10:g.12899882dup , CM000679.1:g.12899882dup GRCh37
NC_000017.9:g.12840607dup NCBI36
NG_015808.1:g.26500dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.1641dup MANE Select ENSP00000337445.4:p.His548AlafsTer?
ENST00000338034.8:c.1641dup ENSP00000337445.4:p.His548AlafsTer?
ENST00000395962.6:c.1584dup ENSP00000379291.1:p.His529AlafsTer?
ENST00000426905.7:c.1521dup ENSP00000405223.3:p.His508AlafsTer?
ENST00000465825.5:n.960dup
ENST00000480891.5:n.1470dup
ENST00000484122.5:n.1903dup
ENST00000487229.6:n.1187dup
ENST00000491478.5:n.218dup
ENST00000492559.5:n.448dup
ENST00000584650.5:c.1040dup
NM_001165962.1:c.1521dup NP_001159434.1:p.His508AlafsTer?
NM_018127.6:c.1641dup NP_060597.4:p.His548AlafsTer?
NM_173717.1:c.1638dup NP_776065.1:p.His547AlafsTer?
XM_024450850.1:c.1722dup XP_024306618.1:p.His575AlafsTer?
XM_024450851.1:c.1722dup XP_024306619.1:p.His575AlafsTer?
XM_024450852.1:c.1641dup XP_024306620.1:p.His548AlafsTer?
XM_024450853.1:c.1638dup XP_024306621.1:p.His547AlafsTer?
XM_024450854.1:c.1602dup XP_024306622.1:p.His535AlafsTer?
XM_024450855.1:c.1521dup XP_024306623.1:p.His508AlafsTer?
XM_024450856.1:c.1440dup XP_024306624.1:p.His481AlafsTer?
XM_024450857.1:c.1440dup XP_024306625.1:p.His481AlafsTer?
XM_024450858.1:c.1359dup XP_024306626.1:p.His454AlafsTer?
XM_024450859.1:c.1356dup XP_024306627.1:p.His453AlafsTer?
XM_024450860.1:c.1359dup XP_024306628.1:p.His454AlafsTer?
XM_024450861.1:c.1359dup XP_024306629.1:p.His454AlafsTer?
XM_024450862.1:c.1356dup XP_024306630.1:p.His453AlafsTer?
NM_018127.7:c.1641dup MANE Select NP_060597.4:p.His548AlafsTer?
NM_001165962.2:c.1521dup NP_001159434.1:p.His508AlafsTer?
NM_173717.2:c.1638dup NP_776065.1:p.His547AlafsTer?
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