Canonical Allele Identifier: CA2964185366

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992963_12992965del , CM000679.2:g.12992963_12992965del	GRCh38
NC_000017.10:g.12896280_12896282del , CM000679.1:g.12896280_12896282del	GRCh37
NC_000017.9:g.12837005_12837007del	NCBI36
NG_015808.1:g.30104_30106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2338_2340del MANE Select	ENSP00000337445.4:p.Glu780del
ENST00000338034.8:c.2338_2340del	ENSP00000337445.4:p.Glu780del
ENST00000395962.6:c.2281_2283del	ENSP00000379291.1:p.Glu761del
ENST00000426905.7:c.2218_2220del	ENSP00000405223.3:p.Glu740del
ENST00000465825.5:n.2225_2227del
ENST00000480891.5:n.2167_2169del
ENST00000484122.5:n.3168_3170del
ENST00000487229.6:n.1884_1886del
ENST00000584650.5:c.1737_1739del
NM_001165962.1:c.2218_2220del	NP_001159434.1:p.Glu740del
NM_018127.6:c.2338_2340del	NP_060597.4:p.Glu780del
NM_173717.1:c.2335_2337del	NP_776065.1:p.Glu779del
XM_024450850.1:c.2497_2499del	XP_024306618.1:p.Glu833del
XM_024450851.1:c.2419_2421del	XP_024306619.1:p.Glu807del
XM_024450852.1:c.2416_2418del	XP_024306620.1:p.Glu806del
XM_024450853.1:c.2413_2415del	XP_024306621.1:p.Glu805del
XM_024450854.1:c.2377_2379del	XP_024306622.1:p.Glu793del
XM_024450855.1:c.2296_2298del	XP_024306623.1:p.Glu766del
XM_024450856.1:c.2215_2217del	XP_024306624.1:p.Glu739del
XM_024450857.1:c.2215_2217del	XP_024306625.1:p.Glu739del
XM_024450858.1:c.2134_2136del	XP_024306626.1:p.Glu712del
XM_024450859.1:c.2131_2133del	XP_024306627.1:p.Glu711del
XM_024450860.1:c.2056_2058del	XP_024306628.1:p.Glu686del
XM_024450861.1:c.2056_2058del	XP_024306629.1:p.Glu686del
XM_024450862.1:c.2053_2055del	XP_024306630.1:p.Glu685del
NM_018127.7:c.2338_2340del MANE Select	NP_060597.4:p.Glu780del
NM_001165962.2:c.2218_2220del	NP_001159434.1:p.Glu740del
NM_173717.2:c.2335_2337del	NP_776065.1:p.Glu779del