Canonical Allele Identifier: CA16041296
Gene: ELP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370915
ClinVar RCV Id: RCV000411836
dbSNP Id: rs1057516865

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108899868del , CM000671.2:g.108899868del GRCh38
NC_000009.11:g.111662148del , CM000671.1:g.111662148del GRCh37
NC_000009.10:g.110701969del NCBI36
NG_008788.1:g.39461del , LRG_251:g.39461del

Transcript Alleles

HGVS Amino-acid change
ENST00000374647.10:c.2158del MANE Select ENSP00000363779.5:p.His720IlefsTer7
ENST00000495759.6:c.*768del ENSP00000433514.2:n.*768del
ENST00000674535.1:c.2158del ENSP00000502142.1:p.His720IlefsTer7
ENST00000674704.1:n.3965del
ENST00000674836.1:n.2463del
ENST00000674890.1:c.2158del ENSP00000501870.1:p.His720IlefsTer7
ENST00000674938.1:c.1816del ENSP00000502427.1:p.His606IlefsTer7
ENST00000674948.1:c.1816del ENSP00000501602.1:p.His606IlefsTer7
ENST00000675052.1:c.2158del ENSP00000502664.1:p.His720IlefsTer7
ENST00000675078.1:c.2158del ENSP00000501549.1:p.His720IlefsTer7
ENST00000675215.1:c.*1382del ENSP00000502558.1:n.*1382del
ENST00000675233.1:n.3985del
ENST00000675321.1:c.2158del ENSP00000502751.1:p.His720IlefsTer7
ENST00000675325.1:n.3954del
ENST00000675335.1:c.2189del ENSP00000502182.1:n.2189del
ENST00000675400.1:n.3831del
ENST00000675406.1:c.2158del ENSP00000501893.1:p.His720IlefsTer7
ENST00000675458.1:c.2251del ENSP00000501754.1:n.2251del
ENST00000675507.1:n.3954del
ENST00000675535.1:c.2158del ENSP00000501667.1:p.His720IlefsTer7
ENST00000675566.1:n.3954del
ENST00000675602.1:n.5206del
ENST00000675647.1:n.2463del
ENST00000675711.1:c.2158del ENSP00000502485.1:p.His720IlefsTer7
ENST00000675727.1:c.2158del ENSP00000501722.1:p.His720IlefsTer7
ENST00000675748.1:n.3792del
ENST00000675765.1:c.2158del ENSP00000502640.1:p.His720IlefsTer7
ENST00000675825.1:c.2158del ENSP00000502632.1:p.His720IlefsTer7
ENST00000675877.1:n.2463del
ENST00000675893.1:c.*3227del ENSP00000502001.1:n.*3227del
ENST00000675943.1:n.5773del
ENST00000675979.1:c.*1401del ENSP00000502208.1:n.*1401del
ENST00000676044.1:c.2158del ENSP00000502378.1:p.His720IlefsTer7
ENST00000676086.1:n.3943del
ENST00000676121.1:n.3986del
ENST00000676237.1:c.2059del ENSP00000501828.1:p.His687IlefsTer7
ENST00000676416.1:c.1816del ENSP00000501660.1:p.His606IlefsTer7
ENST00000676424.1:n.3954del
ENST00000676429.1:n.6627del
ENST00000374647.9:c.2158del ENSP00000363779.5:p.His720IlefsTer7
ENST00000537196.1:c.1111del ENSP00000439367.1:p.His371IlefsTer7
NM_003640.3:c.2158del , LRG_251t1:c.2158del NP_003631.2:p.His720IlefsTer7
XM_005252285.2:c.1816del XP_005252342.1:p.His606IlefsTer7
XM_011519136.1:c.2158del XP_011517438.1:p.His720IlefsTer7
XM_011519137.1:c.1816del XP_011517439.1:p.His606IlefsTer7
XR_929859.1:n.2474del
NM_001318360.1:c.1816del NP_001305289.1:p.His606IlefsTer7
NM_001330749.1:c.1111del NP_001317678.1:p.His371IlefsTer7
NM_003640.4:c.2158del NP_003631.2:p.His720IlefsTer7
XM_011519136.2:c.2158del XP_011517438.1:p.His720IlefsTer7
XR_929859.3:n.2485del
NM_003640.5:c.2158del MANE Select NP_003631.2:p.His720IlefsTer7
NM_001318360.2:c.1816del NP_001305289.1:p.His606IlefsTer7
NM_001330749.2:c.1111del NP_001317678.1:p.His371IlefsTer7