Canonical Allele Identifier: CA2248421783

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993031_12993033delinsGTC , CM000679.2:g.12993031_12993033delinsGTC	GRCh38
NC_000017.10:g.12896348_12896350delinsGTC , CM000679.1:g.12896348_12896350delinsGTC	GRCh37
NC_000017.9:g.12837073_12837075delinsGTC	NCBI36
NG_015808.1:g.30032_30034delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2266_2268delinsGAC MANE Select	ENSP00000337445.4:p.Asp756=
ENST00000338034.8:c.2266_2268delinsGAC	ENSP00000337445.4:p.Asp756=
ENST00000395962.6:c.2209_2211delinsGAC	ENSP00000379291.1:p.Asp737=
ENST00000426905.7:c.2146_2148delinsGAC	ENSP00000405223.3:p.Asp716=
ENST00000465825.5:n.2153_2155delinsGAC
ENST00000480891.5:n.2095_2097delinsGAC
ENST00000484122.5:n.3096_3098delinsGAC
ENST00000487229.6:n.1812_1814delinsGAC
ENST00000584650.5:c.1665_1667delinsGAC
NM_001165962.1:c.2146_2148delinsGAC	NP_001159434.1:p.Asp716=
NM_018127.6:c.2266_2268delinsGAC	NP_060597.4:p.Asp756=
NM_173717.1:c.2263_2265delinsGAC	NP_776065.1:p.Asp755=
XM_024450850.1:c.2425_2427delinsGAC	XP_024306618.1:p.Asp809=
XM_024450851.1:c.2347_2349delinsGAC	XP_024306619.1:p.Asp783=
XM_024450852.1:c.2344_2346delinsGAC	XP_024306620.1:p.Asp782=
XM_024450853.1:c.2341_2343delinsGAC	XP_024306621.1:p.Asp781=
XM_024450854.1:c.2305_2307delinsGAC	XP_024306622.1:p.Asp769=
XM_024450855.1:c.2224_2226delinsGAC	XP_024306623.1:p.Asp742=
XM_024450856.1:c.2143_2145delinsGAC	XP_024306624.1:p.Asp715=
XM_024450857.1:c.2143_2145delinsGAC	XP_024306625.1:p.Asp715=
XM_024450858.1:c.2062_2064delinsGAC	XP_024306626.1:p.Asp688=
XM_024450859.1:c.2059_2061delinsGAC	XP_024306627.1:p.Asp687=
XM_024450860.1:c.1984_1986delinsGAC	XP_024306628.1:p.Asp662=
XM_024450861.1:c.1984_1986delinsGAC	XP_024306629.1:p.Asp662=
XM_024450862.1:c.1981_1983delinsGAC	XP_024306630.1:p.Asp661=
NM_018127.7:c.2266_2268delinsGAC MANE Select	NP_060597.4:p.Asp756=
NM_001165962.2:c.2146_2148delinsGAC	NP_001159434.1:p.Asp716=
NM_173717.2:c.2263_2265delinsGAC	NP_776065.1:p.Asp755=