Canonical Allele Identifier: CA1871337592

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899870_108899871delinsAC , CM000671.2:g.108899870_108899871delinsAC	GRCh38
NC_000009.11:g.111662150_111662151delinsAC , CM000671.1:g.111662150_111662151delinsAC	GRCh37
NC_000009.10:g.110701971_110701972delinsAC	NCBI36
NG_008788.1:g.39458_39459delinsGT , LRG_251:g.39458_39459delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2155_2156delinsGT MANE Select	ENSP00000363779.5:p.Val719=
ENST00000495759.6:c.*765_*766delinsGT	ENSP00000433514.2:n.*765_*766delinsGT
ENST00000674535.1:c.2155_2156delinsGT	ENSP00000502142.1:p.Val719=
ENST00000674704.1:n.3962_3963delinsGT
ENST00000674836.1:n.2460_2461delinsGT
ENST00000674890.1:c.2155_2156delinsGT	ENSP00000501870.1:p.Val719=
ENST00000674938.1:c.1813_1814delinsGT	ENSP00000502427.1:p.Val605=
ENST00000674948.1:c.1813_1814delinsGT	ENSP00000501602.1:p.Val605=
ENST00000675052.1:c.2155_2156delinsGT	ENSP00000502664.1:p.Val719=
ENST00000675078.1:c.2155_2156delinsGT	ENSP00000501549.1:p.Val719=
ENST00000675215.1:c.*1379_*1380delinsGT	ENSP00000502558.1:n.*1379_*1380delinsGT
ENST00000675233.1:n.3982_3983delinsGT
ENST00000675321.1:c.2155_2156delinsGT	ENSP00000502751.1:p.Val719=
ENST00000675325.1:n.3951_3952delinsGT
ENST00000675335.1:c.2186_2187delinsGT	ENSP00000502182.1:n.2186_2187delinsGT
ENST00000675400.1:n.3828_3829delinsGT
ENST00000675406.1:c.2155_2156delinsGT	ENSP00000501893.1:p.Val719=
ENST00000675458.1:c.2248_2249delinsGT	ENSP00000501754.1:n.2248_2249delinsGT
ENST00000675507.1:n.3951_3952delinsGT
ENST00000675535.1:c.2155_2156delinsGT	ENSP00000501667.1:p.Val719=
ENST00000675566.1:n.3951_3952delinsGT
ENST00000675602.1:n.5203_5204delinsGT
ENST00000675647.1:n.2460_2461delinsGT
ENST00000675711.1:c.2155_2156delinsGT	ENSP00000502485.1:p.Val719=
ENST00000675727.1:c.2155_2156delinsGT	ENSP00000501722.1:p.Val719=
ENST00000675748.1:n.3789_3790delinsGT
ENST00000675765.1:c.2155_2156delinsGT	ENSP00000502640.1:p.Val719=
ENST00000675825.1:c.2155_2156delinsGT	ENSP00000502632.1:p.Val719=
ENST00000675877.1:n.2460_2461delinsGT
ENST00000675893.1:c.*3224_*3225delinsGT	ENSP00000502001.1:n.*3224_*3225delinsGT
ENST00000675943.1:n.5770_5771delinsGT
ENST00000675979.1:c.*1398_*1399delinsGT	ENSP00000502208.1:n.*1398_*1399delinsGT
ENST00000676044.1:c.2155_2156delinsGT	ENSP00000502378.1:p.Val719=
ENST00000676086.1:n.3940_3941delinsGT
ENST00000676121.1:n.3983_3984delinsGT
ENST00000676237.1:c.2056_2057delinsGT	ENSP00000501828.1:p.Val686=
ENST00000676416.1:c.1813_1814delinsGT	ENSP00000501660.1:p.Val605=
ENST00000676424.1:n.3951_3952delinsGT
ENST00000676429.1:n.6624_6625delinsGT
ENST00000374647.9:c.2155_2156delinsGT	ENSP00000363779.5:p.Val719=
ENST00000537196.1:c.1108_1109delinsGT	ENSP00000439367.1:p.Val370=
NM_003640.3:c.2155_2156delinsGT , LRG_251t1:c.2155_2156delinsGT	NP_003631.2:p.Val719=
XM_005252285.2:c.1813_1814delinsGT	XP_005252342.1:p.Val605=
XM_011519136.1:c.2155_2156delinsGT	XP_011517438.1:p.Val719=
XM_011519137.1:c.1813_1814delinsGT	XP_011517439.1:p.Val605=
XR_929859.1:n.2471_2472delinsGT
NM_001318360.1:c.1813_1814delinsGT	NP_001305289.1:p.Val605=
NM_001330749.1:c.1108_1109delinsGT	NP_001317678.1:p.Val370=
NM_003640.4:c.2155_2156delinsGT	NP_003631.2:p.Val719=
XM_011519136.2:c.2155_2156delinsGT	XP_011517438.1:p.Val719=
XR_929859.3:n.2482_2483delinsGT
NM_003640.5:c.2155_2156delinsGT MANE Select	NP_003631.2:p.Val719=
NM_001318360.2:c.1813_1814delinsGT	NP_001305289.1:p.Val605=
NM_001330749.2:c.1108_1109delinsGT	NP_001317678.1:p.Val370=