Canonical Allele Identifier: CA2739267196
Gene: ELAC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2824952
ClinVar RCV Id: RCV003741882

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12992987_12992988del , CM000679.2:g.12992987_12992988del GRCh38
NC_000017.10:g.12896304_12896305del , CM000679.1:g.12896304_12896305del GRCh37
NC_000017.9:g.12837029_12837030del NCBI36
NG_015808.1:g.30078_30079del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.2312_2313del MANE Select ENSP00000337445.4:p.Phe771CysfsTer?
ENST00000338034.8:c.2312_2313del ENSP00000337445.4:p.Phe771CysfsTer?
ENST00000395962.6:c.2255_2256del ENSP00000379291.1:p.Phe752CysfsTer?
ENST00000426905.7:c.2192_2193del ENSP00000405223.3:p.Phe731CysfsTer?
ENST00000465825.5:n.2199_2200del
ENST00000480891.5:n.2141_2142del
ENST00000484122.5:n.3142_3143del
ENST00000487229.6:n.1858_1859del
ENST00000584650.5:c.1711_1712del
NM_001165962.1:c.2192_2193del NP_001159434.1:p.Phe731CysfsTer?
NM_018127.6:c.2312_2313del NP_060597.4:p.Phe771CysfsTer?
NM_173717.1:c.2309_2310del NP_776065.1:p.Phe770CysfsTer?
XM_024450850.1:c.2471_2472del XP_024306618.1:p.Phe824CysfsTer?
XM_024450851.1:c.2393_2394del XP_024306619.1:p.Phe798CysfsTer?
XM_024450852.1:c.2390_2391del XP_024306620.1:p.Phe797CysfsTer?
XM_024450853.1:c.2387_2388del XP_024306621.1:p.Phe796CysfsTer?
XM_024450854.1:c.2351_2352del XP_024306622.1:p.Phe784CysfsTer?
XM_024450855.1:c.2270_2271del XP_024306623.1:p.Phe757CysfsTer?
XM_024450856.1:c.2189_2190del XP_024306624.1:p.Phe730CysfsTer?
XM_024450857.1:c.2189_2190del XP_024306625.1:p.Phe730CysfsTer?
XM_024450858.1:c.2108_2109del XP_024306626.1:p.Phe703CysfsTer?
XM_024450859.1:c.2105_2106del XP_024306627.1:p.Phe702CysfsTer?
XM_024450860.1:c.2030_2031del XP_024306628.1:p.Phe677CysfsTer?
XM_024450861.1:c.2030_2031del XP_024306629.1:p.Phe677CysfsTer?
XM_024450862.1:c.2027_2028del XP_024306630.1:p.Phe676CysfsTer?
NM_018127.7:c.2312_2313del MANE Select NP_060597.4:p.Phe771CysfsTer?
NM_001165962.2:c.2192_2193del NP_001159434.1:p.Phe731CysfsTer?
NM_173717.2:c.2309_2310del NP_776065.1:p.Phe770CysfsTer?