Canonical Allele Identifier: CA2840256621

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993017_12993018insC , CM000679.2:g.12993017_12993018insC	GRCh38
NC_000017.10:g.12896334_12896335insC , CM000679.1:g.12896334_12896335insC	GRCh37
NC_000017.9:g.12837059_12837060insC	NCBI36
NG_015808.1:g.30047_30048insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2281_2282insG MANE Select	ENSP00000337445.4:p.Pro761ArgfsTer?
ENST00000338034.8:c.2281_2282insG	ENSP00000337445.4:p.Pro761ArgfsTer?
ENST00000395962.6:c.2224_2225insG	ENSP00000379291.1:p.Pro742ArgfsTer?
ENST00000426905.7:c.2161_2162insG	ENSP00000405223.3:p.Pro721ArgfsTer?
ENST00000465825.5:n.2168_2169insG
ENST00000480891.5:n.2110_2111insG
ENST00000484122.5:n.3111_3112insG
ENST00000487229.6:n.1827_1828insG
ENST00000584650.5:c.1680_1681insG
NM_001165962.1:c.2161_2162insG	NP_001159434.1:p.Pro721ArgfsTer?
NM_018127.6:c.2281_2282insG	NP_060597.4:p.Pro761ArgfsTer?
NM_173717.1:c.2278_2279insG	NP_776065.1:p.Pro760ArgfsTer?
XM_024450850.1:c.2440_2441insG	XP_024306618.1:p.Pro814ArgfsTer?
XM_024450851.1:c.2362_2363insG	XP_024306619.1:p.Pro788ArgfsTer?
XM_024450852.1:c.2359_2360insG	XP_024306620.1:p.Pro787ArgfsTer?
XM_024450853.1:c.2356_2357insG	XP_024306621.1:p.Pro786ArgfsTer?
XM_024450854.1:c.2320_2321insG	XP_024306622.1:p.Pro774ArgfsTer?
XM_024450855.1:c.2239_2240insG	XP_024306623.1:p.Pro747ArgfsTer?
XM_024450856.1:c.2158_2159insG	XP_024306624.1:p.Pro720ArgfsTer?
XM_024450857.1:c.2158_2159insG	XP_024306625.1:p.Pro720ArgfsTer?
XM_024450858.1:c.2077_2078insG	XP_024306626.1:p.Pro693ArgfsTer?
XM_024450859.1:c.2074_2075insG	XP_024306627.1:p.Pro692ArgfsTer?
XM_024450860.1:c.1999_2000insG	XP_024306628.1:p.Pro667ArgfsTer?
XM_024450861.1:c.1999_2000insG	XP_024306629.1:p.Pro667ArgfsTer?
XM_024450862.1:c.1996_1997insG	XP_024306630.1:p.Pro666ArgfsTer?
NM_018127.7:c.2281_2282insG MANE Select	NP_060597.4:p.Pro761ArgfsTer?
NM_001165962.2:c.2161_2162insG	NP_001159434.1:p.Pro721ArgfsTer?
NM_173717.2:c.2278_2279insG	NP_776065.1:p.Pro760ArgfsTer?