Canonical Allele Identifier: CA2580079373

Gene: ELP1

Linked Data

• ClinVar Variation Id: 1724833
• ClinVar RCV Id: RCV002307892

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108894008del , CM000671.2:g.108894008del	GRCh38
NC_000009.11:g.111656288del , CM000671.1:g.111656288del	GRCh37
NC_000009.10:g.110696109del	NCBI36
NG_008788.1:g.45321del , LRG_251:g.45321del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2795del MANE Select	ENSP00000363779.5:p.Gln932ArgfsTer5
ENST00000495759.6:c.*1405del	ENSP00000433514.2:n.*1405del
ENST00000674535.1:c.2795del	ENSP00000502142.1:p.Gln932ArgfsTer5
ENST00000674704.1:n.5880del
ENST00000674836.1:n.3408del
ENST00000674890.1:c.*30del	ENSP00000501870.1:n.*30del
ENST00000674938.1:c.2453del	ENSP00000502427.1:p.Gln818ArgfsTer5
ENST00000674948.1:c.2453del	ENSP00000501602.1:p.Gln818ArgfsTer5
ENST00000675052.1:c.2795del	ENSP00000502664.1:p.Gln932ArgfsTer5
ENST00000675078.1:c.2795del	ENSP00000501549.1:p.Gln932ArgfsTer5
ENST00000675215.1:c.*2019del	ENSP00000502558.1:n.*2019del
ENST00000675233.1:n.4622del
ENST00000675321.1:c.2795del	ENSP00000502751.1:p.Gln932ArgfsTer5
ENST00000675325.1:n.4752del
ENST00000675335.1:c.2826del	ENSP00000502182.1:n.2826del
ENST00000675400.1:n.4530del
ENST00000675406.1:c.2795del	ENSP00000501893.1:p.Gln932ArgfsTer5
ENST00000675458.1:c.2888del	ENSP00000501754.1:n.2888del
ENST00000675507.1:n.4591del
ENST00000675535.1:c.*422del	ENSP00000501667.1:n.*422del
ENST00000675566.1:n.4653del
ENST00000675602.1:n.5843del
ENST00000675647.1:n.3100del
ENST00000675711.1:c.2795del	ENSP00000502485.1:p.Gln932ArgfsTer5
ENST00000675727.1:c.2795del	ENSP00000501722.1:p.Gln932ArgfsTer5
ENST00000675748.1:n.4429del
ENST00000675765.1:c.*178del	ENSP00000502640.1:n.*178del
ENST00000675825.1:c.2795del	ENSP00000502632.1:p.Gln932ArgfsTer5
ENST00000675877.1:n.3100del
ENST00000675893.1:c.*3864del	ENSP00000502001.1:n.*3864del
ENST00000675943.1:n.6410del
ENST00000675979.1:c.*2038del	ENSP00000502208.1:n.*2038del
ENST00000676044.1:c.*455del	ENSP00000502378.1:n.*455del
ENST00000676086.1:n.4580del
ENST00000676121.1:n.4623del
ENST00000676237.1:c.2696del	ENSP00000501828.1:p.Gln899ArgfsTer5
ENST00000676416.1:c.2453del	ENSP00000501660.1:p.Gln818ArgfsTer5
ENST00000676424.1:n.4591del
ENST00000676429.1:n.7264del
ENST00000374647.9:c.2795del	ENSP00000363779.5:p.Gln932ArgfsTer5
ENST00000537196.1:c.1748del	ENSP00000439367.1:p.Gln583ArgfsTer5
NM_003640.3:c.2795del , LRG_251t1:c.2795del	NP_003631.2:p.Gln932ArgfsTer5
XM_005252285.2:c.2453del	XP_005252342.1:p.Gln818ArgfsTer5
XM_011519136.1:c.2795del	XP_011517438.1:p.Gln932ArgfsTer5
XM_011519137.1:c.2453del	XP_011517439.1:p.Gln818ArgfsTer5
XR_929859.1:n.3173del
NM_001318360.1:c.2453del	NP_001305289.1:p.Gln818ArgfsTer5
NM_001330749.1:c.1748del	NP_001317678.1:p.Gln583ArgfsTer5
NM_003640.4:c.2795del	NP_003631.2:p.Gln932ArgfsTer5
XM_011519136.2:c.2795del	XP_011517438.1:p.Gln932ArgfsTer5
XR_929859.3:n.3184del
NM_003640.5:c.2795del MANE Select	NP_003631.2:p.Gln932ArgfsTer5
NM_001318360.2:c.2453del	NP_001305289.1:p.Gln818ArgfsTer5
NM_001330749.2:c.1748del	NP_001317678.1:p.Gln583ArgfsTer5