Canonical Allele Identifier: CA2248421605

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992949_12992961delinsTCTCCCTGCGCTC , CM000679.2:g.12992949_12992961delinsTCTCCCTGCGCTC	GRCh38
NC_000017.10:g.12896266_12896278delinsTCTCCCTGCGCTC , CM000679.1:g.12896266_12896278delinsTCTCCCTGCGCTC	GRCh37
NC_000017.9:g.12836991_12837003delinsTCTCCCTGCGCTC	NCBI36
NG_015808.1:g.30104_30116delinsGAGCGCAGGGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2338_2350delinsGAGCGCAGGGAGA MANE Select	ENSP00000337445.4:p.Glu780=
ENST00000338034.8:c.2338_2350delinsGAGCGCAGGGAGA	ENSP00000337445.4:p.Glu780=
ENST00000395962.6:c.2281_2293delinsGAGCGCAGGGAGA	ENSP00000379291.1:p.Glu761=
ENST00000426905.7:c.2218_2230delinsGAGCGCAGGGAGA	ENSP00000405223.3:p.Glu740=
ENST00000465825.5:n.2225_2237delinsGAGCGCAGGGAGA
ENST00000480891.5:n.2167_2179delinsGAGCGCAGGGAGA
ENST00000484122.5:n.3168_3180delinsGAGCGCAGGGAGA
ENST00000487229.6:n.1884_1896delinsGAGCGCAGGGAGA
ENST00000584650.5:c.1737_1749delinsGAGCGCAGGGAGA
NM_001165962.1:c.2218_2230delinsGAGCGCAGGGAGA	NP_001159434.1:p.Glu740=
NM_018127.6:c.2338_2350delinsGAGCGCAGGGAGA	NP_060597.4:p.Glu780=
NM_173717.1:c.2335_2347delinsGAGCGCAGGGAGA	NP_776065.1:p.Glu779=
XM_024450850.1:c.2497_2509delinsGAGCGCAGGGAGA	XP_024306618.1:p.Glu833=
XM_024450851.1:c.2419_2431delinsGAGCGCAGGGAGA	XP_024306619.1:p.Glu807=
XM_024450852.1:c.2416_2428delinsGAGCGCAGGGAGA	XP_024306620.1:p.Glu806=
XM_024450853.1:c.2413_2425delinsGAGCGCAGGGAGA	XP_024306621.1:p.Glu805=
XM_024450854.1:c.2377_2389delinsGAGCGCAGGGAGA	XP_024306622.1:p.Glu793=
XM_024450855.1:c.2296_2308delinsGAGCGCAGGGAGA	XP_024306623.1:p.Glu766=
XM_024450856.1:c.2215_2227delinsGAGCGCAGGGAGA	XP_024306624.1:p.Glu739=
XM_024450857.1:c.2215_2227delinsGAGCGCAGGGAGA	XP_024306625.1:p.Glu739=
XM_024450858.1:c.2134_2146delinsGAGCGCAGGGAGA	XP_024306626.1:p.Glu712=
XM_024450859.1:c.2131_2143delinsGAGCGCAGGGAGA	XP_024306627.1:p.Glu711=
XM_024450860.1:c.2056_2068delinsGAGCGCAGGGAGA	XP_024306628.1:p.Glu686=
XM_024450861.1:c.2056_2068delinsGAGCGCAGGGAGA	XP_024306629.1:p.Glu686=
XM_024450862.1:c.2053_2065delinsGAGCGCAGGGAGA	XP_024306630.1:p.Glu685=
NM_018127.7:c.2338_2350delinsGAGCGCAGGGAGA MANE Select	NP_060597.4:p.Glu780=
NM_001165962.2:c.2218_2230delinsGAGCGCAGGGAGA	NP_001159434.1:p.Glu740=
NM_173717.2:c.2335_2347delinsGAGCGCAGGGAGA	NP_776065.1:p.Glu779=