Canonical Allele Identifier: CA2636193350

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993001-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993006dup , CM000679.2:g.12993006dup	GRCh38
NC_000017.10:g.12896323dup , CM000679.1:g.12896323dup	GRCh37
NC_000017.9:g.12837048dup	NCBI36
NG_015808.1:g.30063dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2297dup MANE Select	ENSP00000337445.4:p.Leu767ThrfsTer?
ENST00000338034.8:c.2297dup	ENSP00000337445.4:p.Leu767ThrfsTer?
ENST00000395962.6:c.2240dup	ENSP00000379291.1:p.Leu748ThrfsTer?
ENST00000426905.7:c.2177dup	ENSP00000405223.3:p.Leu727ThrfsTer?
ENST00000465825.5:n.2184dup
ENST00000480891.5:n.2126dup
ENST00000484122.5:n.3127dup
ENST00000487229.6:n.1843dup
ENST00000584650.5:c.1696dup
NM_001165962.1:c.2177dup	NP_001159434.1:p.Leu727ThrfsTer?
NM_018127.6:c.2297dup	NP_060597.4:p.Leu767ThrfsTer?
NM_173717.1:c.2294dup	NP_776065.1:p.Leu766ThrfsTer?
XM_024450850.1:c.2456dup	XP_024306618.1:p.Leu820ThrfsTer?
XM_024450851.1:c.2378dup	XP_024306619.1:p.Leu794ThrfsTer?
XM_024450852.1:c.2375dup	XP_024306620.1:p.Leu793ThrfsTer?
XM_024450853.1:c.2372dup	XP_024306621.1:p.Leu792ThrfsTer?
XM_024450854.1:c.2336dup	XP_024306622.1:p.Leu780ThrfsTer?
XM_024450855.1:c.2255dup	XP_024306623.1:p.Leu753ThrfsTer?
XM_024450856.1:c.2174dup	XP_024306624.1:p.Leu726ThrfsTer?
XM_024450857.1:c.2174dup	XP_024306625.1:p.Leu726ThrfsTer?
XM_024450858.1:c.2093dup	XP_024306626.1:p.Leu699ThrfsTer?
XM_024450859.1:c.2090dup	XP_024306627.1:p.Leu698ThrfsTer?
XM_024450860.1:c.2015dup	XP_024306628.1:p.Leu673ThrfsTer?
XM_024450861.1:c.2015dup	XP_024306629.1:p.Leu673ThrfsTer?
XM_024450862.1:c.2012dup	XP_024306630.1:p.Leu672ThrfsTer?
NM_018127.7:c.2297dup MANE Select	NP_060597.4:p.Leu767ThrfsTer?
NM_001165962.2:c.2177dup	NP_001159434.1:p.Leu727ThrfsTer?
NM_173717.2:c.2294dup	NP_776065.1:p.Leu766ThrfsTer?