Canonical Allele Identifier: CA2573143754

Gene: ELP1

Linked Data

• ClinVar Variation Id: 1415538
• ClinVar RCV Id: RCV001933129
• dbSNP Id: rs2131966122

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889339_108889340delinsAT , CM000671.2:g.108889339_108889340delinsAT	GRCh38
NC_000009.11:g.111651619_111651620delinsAT , CM000671.1:g.111651619_111651620delinsAT	GRCh37
NC_000009.10:g.110691440_110691441delinsAT	NCBI36
NG_008788.1:g.49989_49990delinsAT , LRG_251:g.49989_49990delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3214_3215delinsAT MANE Select	ENSP00000363779.5:p.Cys1072Ile
ENST00000495759.6:c.*1824_*1825delinsAT	ENSP00000433514.2:n.*1824_*1825delinsAT
ENST00000674535.1:c.3214_3215delinsAT	ENSP00000502142.1:p.Cys1072Ile
ENST00000674704.1:n.6299_6300delinsAT
ENST00000674836.1:n.3827_3828delinsAT
ENST00000674890.1:c.*449_*450delinsAT	ENSP00000501870.1:n.*449_*450delinsAT
ENST00000674938.1:c.2872_2873delinsAT	ENSP00000502427.1:p.Cys958Ile
ENST00000674948.1:c.2872_2873delinsAT	ENSP00000501602.1:p.Cys958Ile
ENST00000675052.1:c.3214_3215delinsAT	ENSP00000502664.1:p.Cys1072Ile
ENST00000675078.1:c.3214_3215delinsAT	ENSP00000501549.1:p.Cys1072Ile
ENST00000675215.1:c.*2438_*2439delinsAT	ENSP00000502558.1:n.*2438_*2439delinsAT
ENST00000675233.1:n.5041_5042delinsAT
ENST00000675321.1:c.3214_3215delinsAT	ENSP00000502751.1:p.Cys1072Ile
ENST00000675325.1:n.5171_5172delinsAT
ENST00000675335.1:c.3245_3246delinsAT	ENSP00000502182.1:n.3245_3246delinsAT
ENST00000675400.1:n.4949_4950delinsAT
ENST00000675406.1:c.3214_3215delinsAT	ENSP00000501893.1:p.Cys1072Ile
ENST00000675458.1:c.3307_3308delinsAT	ENSP00000501754.1:n.3307_3308delinsAT
ENST00000675507.1:n.5010_5011delinsAT
ENST00000675535.1:c.*841_*842delinsAT	ENSP00000501667.1:n.*841_*842delinsAT
ENST00000675566.1:n.5072_5073delinsAT
ENST00000675602.1:n.6262_6263delinsAT
ENST00000675647.1:n.4378_4379delinsAT
ENST00000675711.1:c.3214_3215delinsAT	ENSP00000502485.1:p.Cys1072Ile
ENST00000675727.1:c.3214_3215delinsAT	ENSP00000501722.1:p.Cys1072Ile
ENST00000675748.1:n.4848_4849delinsAT
ENST00000675765.1:c.*597_*598delinsAT	ENSP00000502640.1:n.*597_*598delinsAT
ENST00000675825.1:c.3214_3215delinsAT	ENSP00000502632.1:p.Cys1072Ile
ENST00000675877.1:n.3519_3520delinsAT
ENST00000675893.1:c.*4283_*4284delinsAT	ENSP00000502001.1:n.*4283_*4284delinsAT
ENST00000675943.1:n.6829_6830delinsAT
ENST00000675979.1:c.*2457_*2458delinsAT	ENSP00000502208.1:n.*2457_*2458delinsAT
ENST00000676044.1:c.*874_*875delinsAT	ENSP00000502378.1:n.*874_*875delinsAT
ENST00000676086.1:n.4999_5000delinsAT
ENST00000676121.1:n.5042_5043delinsAT
ENST00000676237.1:c.3115_3116delinsAT	ENSP00000501828.1:p.Cys1039Ile
ENST00000676416.1:c.2872_2873delinsAT	ENSP00000501660.1:p.Cys958Ile
ENST00000676424.1:n.5010_5011delinsAT
ENST00000676429.1:n.7683_7684delinsAT
ENST00000374647.9:c.3214_3215delinsAT	ENSP00000363779.5:p.Cys1072Ile
ENST00000467959.1:n.94_95delinsAT
ENST00000495759.5:c.354_355delinsAT
ENST00000537196.1:c.2167_2168delinsAT	ENSP00000439367.1:p.Cys723Ile
NM_003640.3:c.3214_3215delinsAT , LRG_251t1:c.3214_3215delinsAT	NP_003631.2:p.Cys1072Ile
XM_005252285.2:c.2872_2873delinsAT	XP_005252342.1:p.Cys958Ile
XM_011519136.1:c.3214_3215delinsAT	XP_011517438.1:p.Cys1072Ile
XM_011519137.1:c.2872_2873delinsAT	XP_011517439.1:p.Cys958Ile
NM_001318360.1:c.2872_2873delinsAT	NP_001305289.1:p.Cys958Ile
NM_001330749.1:c.2167_2168delinsAT	NP_001317678.1:p.Cys723Ile
NM_003640.4:c.3214_3215delinsAT	NP_003631.2:p.Cys1072Ile
XM_011519136.2:c.3214_3215delinsAT	XP_011517438.1:p.Cys1072Ile
XR_929859.3:n.3603_3604delinsAT
NM_003640.5:c.3214_3215delinsAT MANE Select	NP_003631.2:p.Cys1072Ile
NM_001318360.2:c.2872_2873delinsAT	NP_001305289.1:p.Cys958Ile
NM_001330749.2:c.2167_2168delinsAT	NP_001317678.1:p.Cys723Ile