Canonical Allele Identifier: CA2248421351
Gene: ELAC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12992851_12992854delinsCTCT , CM000679.2:g.12992851_12992854delinsCTCT GRCh38
NC_000017.10:g.12896168_12896171delinsCTCT , CM000679.1:g.12896168_12896171delinsCTCT GRCh37
NC_000017.9:g.12836893_12836896delinsCTCT NCBI36
NG_015808.1:g.30211_30214delinsAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.2445_2448delinsAGAG MANE Select ENSP00000337445.4:p.Thr815=
ENST00000338034.8:c.2445_2448delinsAGAG ENSP00000337445.4:p.Thr815=
ENST00000395962.6:c.2388_2391delinsAGAG ENSP00000379291.1:p.Thr796=
ENST00000426905.7:c.2325_2328delinsAGAG ENSP00000405223.3:p.Thr775=
ENST00000465825.5:n.2332_2335delinsAGAG
ENST00000480891.5:n.2274_2277delinsAGAG
ENST00000484122.5:n.3275_3278delinsAGAG
ENST00000487229.6:n.1991_1994delinsAGAG
ENST00000584650.5:c.1844_1847delinsAGAG
NM_001165962.1:c.2325_2328delinsAGAG NP_001159434.1:p.Thr775=
NM_018127.6:c.2445_2448delinsAGAG NP_060597.4:p.Thr815=
NM_173717.1:c.2442_2445delinsAGAG NP_776065.1:p.Thr814=
XM_024450850.1:c.2604_2607delinsAGAG XP_024306618.1:p.Thr868=
XM_024450851.1:c.2526_2529delinsAGAG XP_024306619.1:p.Thr842=
XM_024450852.1:c.2523_2526delinsAGAG XP_024306620.1:p.Thr841=
XM_024450853.1:c.2520_2523delinsAGAG XP_024306621.1:p.Thr840=
XM_024450854.1:c.2484_2487delinsAGAG XP_024306622.1:p.Thr828=
XM_024450855.1:c.2403_2406delinsAGAG XP_024306623.1:p.Thr801=
XM_024450856.1:c.2322_2325delinsAGAG XP_024306624.1:p.Thr774=
XM_024450857.1:c.2322_2325delinsAGAG XP_024306625.1:p.Thr774=
XM_024450858.1:c.2241_2244delinsAGAG XP_024306626.1:p.Thr747=
XM_024450859.1:c.2238_2241delinsAGAG XP_024306627.1:p.Thr746=
XM_024450860.1:c.2163_2166delinsAGAG XP_024306628.1:p.Thr721=
XM_024450861.1:c.2163_2166delinsAGAG XP_024306629.1:p.Thr721=
XM_024450862.1:c.2160_2163delinsAGAG XP_024306630.1:p.Thr720=
NM_018127.7:c.2445_2448delinsAGAG MANE Select NP_060597.4:p.Thr815=
NM_001165962.2:c.2325_2328delinsAGAG NP_001159434.1:p.Thr775=
NM_173717.2:c.2442_2445delinsAGAG NP_776065.1:p.Thr814=