Canonical Allele Identifier: CA16615102
Gene: ELAC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 408861
ClinVar RCV Id: RCV000472057 RCV000484886
dbSNP Id: rs1060502161
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.13016933_13016934delinsA , CM000679.2:g.13016933_13016934delinsA GRCh38
NC_000017.10:g.12920250_12920251delinsA , CM000679.1:g.12920250_12920251delinsA GRCh37
NC_000017.9:g.12860975_12860976delinsA NCBI36
NG_015808.1:g.6131_6132delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000338034.9:c.297-2_297-1delinsT MANE Select ENSP00000337445.4:n.297-2_297-1delinsT
ENST00000338034.8:c.297-2_297-1delinsT ENSP00000337445.4:n.297-2_297-1delinsT
ENST00000395962.6:c.240-2_240-1delinsT ENSP00000379291.1:n.240-2_240-1delinsT
ENST00000426905.7:c.297-2_297-1delinsT ENSP00000405223.3:n.297-2_297-1delinsT
ENST00000484122.5:n.559-2_559-1delinsT
ENST00000578071.1:c.297-2_297-1delinsT ENSP00000477482.1:n.297-2_297-1delinsT
ENST00000580504.5:c.15-2_15-1delinsT ENSP00000463594.1:n.15-2_15-1delinsT
ENST00000581499.6:c.15-2_15-1delinsT ENSP00000463321.2:n.15-2_15-1delinsT
ENST00000583371.5:c.15-2_15-1delinsT ENSP00000464358.1:n.15-2_15-1delinsT
ENST00000609101.5:c.15-2_15-1delinsT ENSP00000477044.1:n.15-2_15-1delinsT
ENST00000609345.1:n.101-9_101-8delinsT
ENST00000609757.5:c.15-2_15-1delinsT ENSP00000477093.1:n.15-2_15-1delinsT
NM_001165962.1:c.297-2_297-1delinsT NP_001159434.1:n.297-2_297-1delinsT
NM_018127.6:c.297-2_297-1delinsT NP_060597.4:n.297-2_297-1delinsT
NM_173717.1:c.297-2_297-1delinsT NP_776065.1:n.297-2_297-1delinsT
XM_024450850.1:c.297-2_297-1delinsT XP_024306618.1:n.297-2_297-1delinsT
XM_024450851.1:c.297-2_297-1delinsT XP_024306619.1:n.297-2_297-1delinsT
XM_024450852.1:c.297-2_297-1delinsT XP_024306620.1:n.297-2_297-1delinsT
XM_024450853.1:c.297-2_297-1delinsT XP_024306621.1:n.297-2_297-1delinsT
XM_024450854.1:c.297-2_297-1delinsT XP_024306622.1:n.297-2_297-1delinsT
XM_024450855.1:c.297-2_297-1delinsT XP_024306623.1:n.297-2_297-1delinsT
XM_024450856.1:c.15-2_15-1delinsT XP_024306624.1:n.15-2_15-1delinsT
XM_024450857.1:c.15-2_15-1delinsT XP_024306625.1:n.15-2_15-1delinsT
XM_024450858.1:c.15-2_15-1delinsT XP_024306626.1:n.15-2_15-1delinsT
XM_024450859.1:c.15-2_15-1delinsT XP_024306627.1:n.15-2_15-1delinsT
XM_024450860.1:c.15-2_15-1delinsT XP_024306628.1:n.15-2_15-1delinsT
XM_024450861.1:c.15-2_15-1delinsT XP_024306629.1:n.15-2_15-1delinsT
XM_024450862.1:c.15-2_15-1delinsT XP_024306630.1:n.15-2_15-1delinsT
NM_018127.7:c.297-2_297-1delinsT MANE Select NP_060597.4:n.297-2_297-1delinsT
NM_001165962.2:c.297-2_297-1delinsT NP_001159434.1:n.297-2_297-1delinsT
NM_173717.2:c.297-2_297-1delinsT NP_776065.1:n.297-2_297-1delinsT
Search 100 bp 5'
Search 100 bp 3'