Canonical Allele Identifier: CA2248421807

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993046_12993058delinsCTAGAAGACACAA , CM000679.2:g.12993046_12993058delinsCTAGAAGACACAA	GRCh38
NC_000017.10:g.12896363_12896375delinsCTAGAAGACACAA , CM000679.1:g.12896363_12896375delinsCTAGAAGACACAA	GRCh37
NC_000017.9:g.12837088_12837100delinsCTAGAAGACACAA	NCBI36
NG_015808.1:g.30007_30019delinsTTGTGTCTTCTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2254-13_2254-1delinsTTGTGTCTTCTAG MANE Select	ENSP00000337445.4:n.2254-13_2254-1delinsTTGTGTCTTCTAG
ENST00000338034.8:c.2254-13_2254-1delinsTTGTGTCTTCTAG	ENSP00000337445.4:n.2254-13_2254-1delinsTTGTGTCTTCTAG
ENST00000395962.6:c.2197-13_2197-1delinsTTGTGTCTTCTAG	ENSP00000379291.1:n.2197-13_2197-1delinsTTGTGTCTTCTAG
ENST00000426905.7:c.2134-13_2134-1delinsTTGTGTCTTCTAG	ENSP00000405223.3:n.2134-13_2134-1delinsTTGTGTCTTCTAG
ENST00000465825.5:n.2141-13_2141-1delinsTTGTGTCTTCTAG
ENST00000480891.5:n.2083-13_2083-1delinsTTGTGTCTTCTAG
ENST00000484122.5:n.3084-13_3084-1delinsTTGTGTCTTCTAG
ENST00000487229.6:n.1800-13_1800-1delinsTTGTGTCTTCTAG
ENST00000584650.5:c.1653-13_1653-1delinsTTGTGTCTTCTAG
NM_001165962.1:c.2134-13_2134-1delinsTTGTGTCTTCTAG	NP_001159434.1:n.2134-13_2134-1delinsTTGTGTCTTCTAG
NM_018127.6:c.2254-13_2254-1delinsTTGTGTCTTCTAG	NP_060597.4:n.2254-13_2254-1delinsTTGTGTCTTCTAG
NM_173717.1:c.2251-13_2251-1delinsTTGTGTCTTCTAG	NP_776065.1:n.2251-13_2251-1delinsTTGTGTCTTCTAG
XM_024450850.1:c.2413-13_2413-1delinsTTGTGTCTTCTAG	XP_024306618.1:n.2413-13_2413-1delinsTTGTGTCTTCTAG
XM_024450851.1:c.2335-13_2335-1delinsTTGTGTCTTCTAG	XP_024306619.1:n.2335-13_2335-1delinsTTGTGTCTTCTAG
XM_024450852.1:c.2332-13_2332-1delinsTTGTGTCTTCTAG	XP_024306620.1:n.2332-13_2332-1delinsTTGTGTCTTCTAG
XM_024450853.1:c.2329-13_2329-1delinsTTGTGTCTTCTAG	XP_024306621.1:n.2329-13_2329-1delinsTTGTGTCTTCTAG
XM_024450854.1:c.2293-13_2293-1delinsTTGTGTCTTCTAG	XP_024306622.1:n.2293-13_2293-1delinsTTGTGTCTTCTAG
XM_024450855.1:c.2212-13_2212-1delinsTTGTGTCTTCTAG	XP_024306623.1:n.2212-13_2212-1delinsTTGTGTCTTCTAG
XM_024450856.1:c.2131-13_2131-1delinsTTGTGTCTTCTAG	XP_024306624.1:n.2131-13_2131-1delinsTTGTGTCTTCTAG
XM_024450857.1:c.2131-13_2131-1delinsTTGTGTCTTCTAG	XP_024306625.1:n.2131-13_2131-1delinsTTGTGTCTTCTAG
XM_024450858.1:c.2050-13_2050-1delinsTTGTGTCTTCTAG	XP_024306626.1:n.2050-13_2050-1delinsTTGTGTCTTCTAG
XM_024450859.1:c.2047-13_2047-1delinsTTGTGTCTTCTAG	XP_024306627.1:n.2047-13_2047-1delinsTTGTGTCTTCTAG
XM_024450860.1:c.1972-13_1972-1delinsTTGTGTCTTCTAG	XP_024306628.1:n.1972-13_1972-1delinsTTGTGTCTTCTAG
XM_024450861.1:c.1972-13_1972-1delinsTTGTGTCTTCTAG	XP_024306629.1:n.1972-13_1972-1delinsTTGTGTCTTCTAG
XM_024450862.1:c.1969-13_1969-1delinsTTGTGTCTTCTAG	XP_024306630.1:n.1969-13_1969-1delinsTTGTGTCTTCTAG
NM_018127.7:c.2254-13_2254-1delinsTTGTGTCTTCTAG MANE Select	NP_060597.4:n.2254-13_2254-1delinsTTGTGTCTTCTAG
NM_001165962.2:c.2134-13_2134-1delinsTTGTGTCTTCTAG	NP_001159434.1:n.2134-13_2134-1delinsTTGTGTCTTCTAG
NM_173717.2:c.2251-13_2251-1delinsTTGTGTCTTCTAG	NP_776065.1:n.2251-13_2251-1delinsTTGTGTCTTCTAG