Canonical Allele Identifier: CA2697557958

Gene: ELP1

Linked Data

• ClinVar Variation Id: 2715259
• ClinVar RCV Id: RCV003553208

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889340_108889341del , CM000671.2:g.108889340_108889341del	GRCh38
NC_000009.11:g.111651620_111651621del , CM000671.1:g.111651620_111651621del	GRCh37
NC_000009.10:g.110691441_110691442del	NCBI36
NG_008788.1:g.49991_49992del , LRG_251:g.49991_49992del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3216_3217del MANE Select	ENSP00000363779.5:p.Ala1073ProfsTer4
ENST00000495759.6:c.*1826_*1827del	ENSP00000433514.2:n.*1826_*1827del
ENST00000674535.1:c.3216_3217del	ENSP00000502142.1:p.Ala1073ProfsTer4
ENST00000674704.1:n.6301_6302del
ENST00000674836.1:n.3829_3830del
ENST00000674890.1:c.*451_*452del	ENSP00000501870.1:n.*451_*452del
ENST00000674938.1:c.2874_2875del	ENSP00000502427.1:p.Ala959ProfsTer4
ENST00000674948.1:c.2874_2875del	ENSP00000501602.1:p.Ala959ProfsTer4
ENST00000675052.1:c.3216_3217del	ENSP00000502664.1:p.Ala1073ProfsTer4
ENST00000675078.1:c.3216_3217del	ENSP00000501549.1:p.Ala1073ProfsTer4
ENST00000675215.1:c.*2440_*2441del	ENSP00000502558.1:n.*2440_*2441del
ENST00000675233.1:n.5043_5044del
ENST00000675321.1:c.3216_3217del	ENSP00000502751.1:p.Ala1073ProfsTer4
ENST00000675325.1:n.5173_5174del
ENST00000675335.1:c.3247_3248del	ENSP00000502182.1:n.3247_3248del
ENST00000675400.1:n.4951_4952del
ENST00000675406.1:c.3216_3217del	ENSP00000501893.1:p.Ala1073ProfsTer4
ENST00000675458.1:c.3309_3310del	ENSP00000501754.1:n.3309_3310del
ENST00000675507.1:n.5012_5013del
ENST00000675535.1:c.*843_*844del	ENSP00000501667.1:n.*843_*844del
ENST00000675566.1:n.5074_5075del
ENST00000675602.1:n.6264_6265del
ENST00000675647.1:n.4380_4381del
ENST00000675711.1:c.3216_3217del	ENSP00000502485.1:p.Ala1073ProfsTer7
ENST00000675727.1:c.3216_3217del	ENSP00000501722.1:p.Ala1073ProfsTer4
ENST00000675748.1:n.4850_4851del
ENST00000675765.1:c.*599_*600del	ENSP00000502640.1:n.*599_*600del
ENST00000675825.1:c.3216_3217del	ENSP00000502632.1:p.Ala1073ProfsTer4
ENST00000675877.1:n.3521_3522del
ENST00000675893.1:c.*4285_*4286del	ENSP00000502001.1:n.*4285_*4286del
ENST00000675943.1:n.6831_6832del
ENST00000675979.1:c.*2459_*2460del	ENSP00000502208.1:n.*2459_*2460del
ENST00000676044.1:c.*876_*877del	ENSP00000502378.1:n.*876_*877del
ENST00000676086.1:n.5001_5002del
ENST00000676121.1:n.5044_5045del
ENST00000676237.1:c.3117_3118del	ENSP00000501828.1:p.Ala1040ProfsTer4
ENST00000676416.1:c.2874_2875del	ENSP00000501660.1:p.Ala959ProfsTer4
ENST00000676424.1:n.5012_5013del
ENST00000676429.1:n.7685_7686del
ENST00000374647.9:c.3216_3217del	ENSP00000363779.5:p.Ala1073ProfsTer4
ENST00000467959.1:n.96_97del
ENST00000495759.5:c.356_357del
ENST00000537196.1:c.2169_2170del	ENSP00000439367.1:p.Ala724ProfsTer4
NM_003640.3:c.3216_3217del , LRG_251t1:c.3216_3217del	NP_003631.2:p.Ala1073ProfsTer4
XM_005252285.2:c.2874_2875del	XP_005252342.1:p.Ala959ProfsTer4
XM_011519136.1:c.3216_3217del	XP_011517438.1:p.Ala1073ProfsTer4
XM_011519137.1:c.2874_2875del	XP_011517439.1:p.Ala959ProfsTer4
NM_001318360.1:c.2874_2875del	NP_001305289.1:p.Ala959ProfsTer4
NM_001330749.1:c.2169_2170del	NP_001317678.1:p.Ala724ProfsTer4
NM_003640.4:c.3216_3217del	NP_003631.2:p.Ala1073ProfsTer4
XM_011519136.2:c.3216_3217del	XP_011517438.1:p.Ala1073ProfsTer4
XR_929859.3:n.3605_3606del
NM_003640.5:c.3216_3217del MANE Select	NP_003631.2:p.Ala1073ProfsTer4
NM_001318360.2:c.2874_2875del	NP_001305289.1:p.Ala959ProfsTer4
NM_001330749.2:c.2169_2170del	NP_001317678.1:p.Ala724ProfsTer4