Canonical Allele Identifier: CA2691112626

Gene: ELP1

Linked Data

• gnomAD v4: 9-108889357-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889359del , CM000671.2:g.108889359del	GRCh38
NC_000009.11:g.111651639del , CM000671.1:g.111651639del	GRCh37
NC_000009.10:g.110691460del	NCBI36
NG_008788.1:g.49971del , LRG_251:g.49971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3196del MANE Select	ENSP00000363779.5:p.Ala1066ProfsTer19
ENST00000495759.6:c.*1806del	ENSP00000433514.2:n.*1806del
ENST00000674535.1:c.3196del	ENSP00000502142.1:p.Ala1066ProfsTer19
ENST00000674704.1:n.6281del
ENST00000674836.1:n.3809del
ENST00000674890.1:c.*431del	ENSP00000501870.1:n.*431del
ENST00000674938.1:c.2854del	ENSP00000502427.1:p.Ala952ProfsTer19
ENST00000674948.1:c.2854del	ENSP00000501602.1:p.Ala952ProfsTer19
ENST00000675052.1:c.3196del	ENSP00000502664.1:p.Ala1066ProfsTer19
ENST00000675078.1:c.3196del	ENSP00000501549.1:p.Ala1066ProfsTer19
ENST00000675215.1:c.*2420del	ENSP00000502558.1:n.*2420del
ENST00000675233.1:n.5023del
ENST00000675321.1:c.3196del	ENSP00000502751.1:p.Ala1066ProfsTer19
ENST00000675325.1:n.5153del
ENST00000675335.1:c.3227del	ENSP00000502182.1:n.3227del
ENST00000675400.1:n.4931del
ENST00000675406.1:c.3196del	ENSP00000501893.1:p.Ala1066ProfsTer19
ENST00000675458.1:c.3289del	ENSP00000501754.1:n.3289del
ENST00000675507.1:n.4992del
ENST00000675535.1:c.*823del	ENSP00000501667.1:n.*823del
ENST00000675566.1:n.5054del
ENST00000675602.1:n.6244del
ENST00000675647.1:n.4360del
ENST00000675711.1:c.3196del	ENSP00000502485.1:p.Ala1066ProfsTer?
ENST00000675727.1:c.3196del	ENSP00000501722.1:p.Ala1066ProfsTer19
ENST00000675748.1:n.4830del
ENST00000675765.1:c.*579del	ENSP00000502640.1:n.*579del
ENST00000675825.1:c.3196del	ENSP00000502632.1:p.Ala1066ProfsTer19
ENST00000675877.1:n.3501del
ENST00000675893.1:c.*4265del	ENSP00000502001.1:n.*4265del
ENST00000675943.1:n.6811del
ENST00000675979.1:c.*2439del	ENSP00000502208.1:n.*2439del
ENST00000676044.1:c.*856del	ENSP00000502378.1:n.*856del
ENST00000676086.1:n.4981del
ENST00000676121.1:n.5024del
ENST00000676237.1:c.3097del	ENSP00000501828.1:p.Ala1033ProfsTer19
ENST00000676416.1:c.2854del	ENSP00000501660.1:p.Ala952ProfsTer19
ENST00000676424.1:n.4992del
ENST00000676429.1:n.7665del
ENST00000374647.9:c.3196del	ENSP00000363779.5:p.Ala1066ProfsTer19
ENST00000467959.1:n.76del
ENST00000495759.5:c.336del
ENST00000537196.1:c.2149del	ENSP00000439367.1:p.Ala717ProfsTer19
NM_003640.3:c.3196del , LRG_251t1:c.3196del	NP_003631.2:p.Ala1066ProfsTer19
XM_005252285.2:c.2854del	XP_005252342.1:p.Ala952ProfsTer19
XM_011519136.1:c.3196del	XP_011517438.1:p.Ala1066ProfsTer19
XM_011519137.1:c.2854del	XP_011517439.1:p.Ala952ProfsTer19
NM_001318360.1:c.2854del	NP_001305289.1:p.Ala952ProfsTer19
NM_001330749.1:c.2149del	NP_001317678.1:p.Ala717ProfsTer19
NM_003640.4:c.3196del	NP_003631.2:p.Ala1066ProfsTer19
XM_011519136.2:c.3196del	XP_011517438.1:p.Ala1066ProfsTer19
XR_929859.3:n.3585del
NM_003640.5:c.3196del MANE Select	NP_003631.2:p.Ala1066ProfsTer19
NM_001318360.2:c.2854del	NP_001305289.1:p.Ala952ProfsTer19
NM_001330749.2:c.2149del	NP_001317678.1:p.Ala717ProfsTer19