Canonical Allele Identifier: CA2580092564

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 2001396
• ClinVar RCV Id: RCV002815399

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993003_12993023dup , CM000679.2:g.12993003_12993023dup	GRCh38
NC_000017.10:g.12896320_12896340dup , CM000679.1:g.12896320_12896340dup	GRCh37
NC_000017.9:g.12837045_12837065dup	NCBI36
NG_015808.1:g.30044_30064dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2278_2298dup MANE Select	ENSP00000337445.4:p.Pro766_Leu767insMetProLysLeuIleProPro
ENST00000338034.8:c.2278_2298dup	ENSP00000337445.4:p.Pro766_Leu767insMetProLysLeuIleProPro
ENST00000395962.6:c.2221_2241dup	ENSP00000379291.1:p.Pro747_Leu748insMetProLysLeuIleProPro
ENST00000426905.7:c.2158_2178dup	ENSP00000405223.3:p.Pro726_Leu727insMetProLysLeuIleProPro
ENST00000465825.5:n.2165_2185dup
ENST00000480891.5:n.2107_2127dup
ENST00000484122.5:n.3108_3128dup
ENST00000487229.6:n.1824_1844dup
ENST00000584650.5:c.1677_1697dup
NM_001165962.1:c.2158_2178dup	NP_001159434.1:p.Pro726_Leu727insMetProLysLeuIleProPro
NM_018127.6:c.2278_2298dup	NP_060597.4:p.Pro766_Leu767insMetProLysLeuIleProPro
NM_173717.1:c.2275_2295dup	NP_776065.1:p.Pro765_Leu766insMetProLysLeuIleProPro
XM_024450850.1:c.2437_2457dup	XP_024306618.1:p.Pro819_Leu820insMetProLysLeuIleProPro
XM_024450851.1:c.2359_2379dup	XP_024306619.1:p.Pro793_Leu794insMetProLysLeuIleProPro
XM_024450852.1:c.2356_2376dup	XP_024306620.1:p.Pro792_Leu793insMetProLysLeuIleProPro
XM_024450853.1:c.2353_2373dup	XP_024306621.1:p.Pro791_Leu792insMetProLysLeuIleProPro
XM_024450854.1:c.2317_2337dup	XP_024306622.1:p.Pro779_Leu780insMetProLysLeuIleProPro
XM_024450855.1:c.2236_2256dup	XP_024306623.1:p.Pro752_Leu753insMetProLysLeuIleProPro
XM_024450856.1:c.2155_2175dup	XP_024306624.1:p.Pro725_Leu726insMetProLysLeuIleProPro
XM_024450857.1:c.2155_2175dup	XP_024306625.1:p.Pro725_Leu726insMetProLysLeuIleProPro
XM_024450858.1:c.2074_2094dup	XP_024306626.1:p.Pro698_Leu699insMetProLysLeuIleProPro
XM_024450859.1:c.2071_2091dup	XP_024306627.1:p.Pro697_Leu698insMetProLysLeuIleProPro
XM_024450860.1:c.1996_2016dup	XP_024306628.1:p.Pro672_Leu673insMetProLysLeuIleProPro
XM_024450861.1:c.1996_2016dup	XP_024306629.1:p.Pro672_Leu673insMetProLysLeuIleProPro
XM_024450862.1:c.1993_2013dup	XP_024306630.1:p.Pro671_Leu672insMetProLysLeuIleProPro
NM_018127.7:c.2278_2298dup MANE Select	NP_060597.4:p.Pro766_Leu767insMetProLysLeuIleProPro
NM_001165962.2:c.2158_2178dup	NP_001159434.1:p.Pro726_Leu727insMetProLysLeuIleProPro
NM_173717.2:c.2275_2295dup	NP_776065.1:p.Pro765_Leu766insMetProLysLeuIleProPro