Canonical Allele Identifier: CA8400788

Gene: ELAC2

Linked Data

• dbSNP Id: rs776429479
• ExAC: 17:12896149 CCTT / C
• gnomAD v2: 17-12896149-CCTT-C
• gnomAD v3: 17-12992832-CCTT-C
• gnomAD v4: 17-12992832-CCTT-C
• MyVariant Identifiers: chr17:g.12896150_12896152del (hg19) ; chr17:g.12992833_12992835del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992836_12992838del , CM000679.2:g.12992836_12992838del	GRCh38
NC_000017.10:g.12896153_12896155del , CM000679.1:g.12896153_12896155del	GRCh37
NC_000017.9:g.12836878_12836880del	NCBI36
NG_015808.1:g.30230_30232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2464_2466del MANE Select	ENSP00000337445.4:p.Lys822del
ENST00000338034.8:c.2464_2466del	ENSP00000337445.4:p.Lys822del
ENST00000395962.6:c.2407_2409del	ENSP00000379291.1:p.Lys803del
ENST00000426905.7:c.2344_2346del	ENSP00000405223.3:p.Lys782del
ENST00000465825.5:n.2351_2353del
ENST00000480891.5:n.2293_2295del
ENST00000484122.5:n.3294_3296del
ENST00000487229.6:n.2010_2012del
ENST00000584650.5:c.1863_1865del
NM_001165962.1:c.2344_2346del	NP_001159434.1:p.Lys782del
NM_018127.6:c.2464_2466del	NP_060597.4:p.Lys822del
NM_173717.1:c.2461_2463del	NP_776065.1:p.Lys821del
XM_024450850.1:c.2623_2625del	XP_024306618.1:p.Lys875del
XM_024450851.1:c.2545_2547del	XP_024306619.1:p.Lys849del
XM_024450852.1:c.2542_2544del	XP_024306620.1:p.Lys848del
XM_024450853.1:c.2539_2541del	XP_024306621.1:p.Lys847del
XM_024450854.1:c.2503_2505del	XP_024306622.1:p.Lys835del
XM_024450855.1:c.2422_2424del	XP_024306623.1:p.Lys808del
XM_024450856.1:c.2341_2343del	XP_024306624.1:p.Lys781del
XM_024450857.1:c.2341_2343del	XP_024306625.1:p.Lys781del
XM_024450858.1:c.2260_2262del	XP_024306626.1:p.Lys754del
XM_024450859.1:c.2257_2259del	XP_024306627.1:p.Lys753del
XM_024450860.1:c.2182_2184del	XP_024306628.1:p.Lys728del
XM_024450861.1:c.2182_2184del	XP_024306629.1:p.Lys728del
XM_024450862.1:c.2179_2181del	XP_024306630.1:p.Lys727del
NM_018127.7:c.2464_2466del MANE Select	NP_060597.4:p.Lys822del
NM_001165962.2:c.2344_2346del	NP_001159434.1:p.Lys782del
NM_173717.2:c.2461_2463del	NP_776065.1:p.Lys821del