Canonical Allele Identifier: CA2691117529

Gene: ELP1

Linked Data

• gnomAD v4: 9-108917666-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108917669dup , CM000671.2:g.108917669dup	GRCh38
NC_000009.11:g.111679949dup , CM000671.1:g.111679949dup	GRCh37
NC_000009.10:g.110719770dup	NCBI36
NG_008788.1:g.21662dup , LRG_251:g.21662dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.744dup MANE Select	ENSP00000363779.5:p.Ser249LeufsTer11
ENST00000495759.6:c.552+5175dup	ENSP00000433514.2:n.552+5175dup
ENST00000674535.1:c.744dup	ENSP00000502142.1:p.Ser249LeufsTer11
ENST00000674704.1:n.2551dup
ENST00000674836.1:n.1049dup
ENST00000674890.1:c.744dup	ENSP00000501870.1:p.Ser249LeufsTer11
ENST00000674938.1:c.402dup	ENSP00000502427.1:p.Ser135LeufsTer11
ENST00000674948.1:c.402dup	ENSP00000501602.1:p.Ser135LeufsTer11
ENST00000675052.1:c.744dup	ENSP00000502664.1:p.Ser249LeufsTer11
ENST00000675078.1:c.744dup	ENSP00000501549.1:p.Ser249LeufsTer11
ENST00000675215.1:c.556dup	ENSP00000502558.1:p.Leu186ProfsTer5
ENST00000675233.1:n.2540dup
ENST00000675321.1:c.744dup	ENSP00000502751.1:p.Ser249LeufsTer11
ENST00000675325.1:n.2540dup
ENST00000675335.1:c.744dup	ENSP00000502182.1:p.Ser249LeufsTer11
ENST00000675400.1:n.2417dup
ENST00000675406.1:c.744dup	ENSP00000501893.1:p.Ser249LeufsTer11
ENST00000675458.1:c.837dup	ENSP00000501754.1:n.837dup
ENST00000675507.1:n.2540dup
ENST00000675535.1:c.744dup	ENSP00000501667.1:p.Ser249LeufsTer11
ENST00000675566.1:n.2540dup
ENST00000675602.1:n.2543dup
ENST00000675647.1:n.1049dup
ENST00000675711.1:c.744dup	ENSP00000502485.1:p.Ser249LeufsTer11
ENST00000675727.1:c.744dup	ENSP00000501722.1:p.Ser249LeufsTer11
ENST00000675748.1:n.2378dup
ENST00000675765.1:c.744dup	ENSP00000502640.1:p.Ser249LeufsTer11
ENST00000675825.1:c.744dup	ENSP00000502632.1:p.Ser249LeufsTer11
ENST00000675877.1:n.1049dup
ENST00000675893.1:c.*1813dup	ENSP00000502001.1:n.*1813dup
ENST00000675943.1:n.2540dup
ENST00000675979.1:c.653dup	ENSP00000502208.1:p.Gln219SerfsTer?
ENST00000676044.1:c.744dup	ENSP00000502378.1:p.Ser249LeufsTer11
ENST00000676086.1:n.2540dup
ENST00000676121.1:n.2572dup
ENST00000676237.1:c.650-5dup	ENSP00000501828.1:n.650-5dup
ENST00000676416.1:c.402dup	ENSP00000501660.1:p.Ser135LeufsTer11
ENST00000676424.1:n.2540dup
ENST00000676429.1:n.5213dup
ENST00000374647.9:c.744dup	ENSP00000363779.5:p.Ser249LeufsTer11
ENST00000537196.1:c.-304dup	ENSP00000439367.1:n.-304dup
NM_003640.3:c.744dup , LRG_251t1:c.744dup	NP_003631.2:p.Ser249LeufsTer11
XM_005252285.2:c.402dup	XP_005252342.1:p.Ser135LeufsTer11
XM_011519136.1:c.744dup	XP_011517438.1:p.Ser249LeufsTer11
XM_011519137.1:c.402dup	XP_011517439.1:p.Ser135LeufsTer11
XR_929859.1:n.1060dup
NM_001318360.1:c.402dup	NP_001305289.1:p.Ser135LeufsTer11
NM_001330749.1:c.-304dup	NP_001317678.1:n.-304dup
NM_003640.4:c.744dup	NP_003631.2:p.Ser249LeufsTer11
XM_011519136.2:c.744dup	XP_011517438.1:p.Ser249LeufsTer11
XR_929859.3:n.1071dup
NM_003640.5:c.744dup MANE Select	NP_003631.2:p.Ser249LeufsTer11
NM_001318360.2:c.402dup	NP_001305289.1:p.Ser135LeufsTer11
NM_001330749.2:c.-304dup	NP_001317678.1:n.-304dup