Canonical Allele Identifier: CA1871337591

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899867_108899868delinsTG , CM000671.2:g.108899867_108899868delinsTG	GRCh38
NC_000009.11:g.111662147_111662148delinsTG , CM000671.1:g.111662147_111662148delinsTG	GRCh37
NC_000009.10:g.110701968_110701969delinsTG	NCBI36
NG_008788.1:g.39461_39462delinsCA , LRG_251:g.39461_39462delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2158_2159delinsCA MANE Select	ENSP00000363779.5:p.His720=
ENST00000495759.6:c.*768_*769delinsCA	ENSP00000433514.2:n.*768_*769delinsCA
ENST00000674535.1:c.2158_2159delinsCA	ENSP00000502142.1:p.His720=
ENST00000674704.1:n.3965_3966delinsCA
ENST00000674836.1:n.2463_2464delinsCA
ENST00000674890.1:c.2158_2159delinsCA	ENSP00000501870.1:p.His720=
ENST00000674938.1:c.1816_1817delinsCA	ENSP00000502427.1:p.His606=
ENST00000674948.1:c.1816_1817delinsCA	ENSP00000501602.1:p.His606=
ENST00000675052.1:c.2158_2159delinsCA	ENSP00000502664.1:p.His720=
ENST00000675078.1:c.2158_2159delinsCA	ENSP00000501549.1:p.His720=
ENST00000675215.1:c.*1382_*1383delinsCA	ENSP00000502558.1:n.*1382_*1383delinsCA
ENST00000675233.1:n.3985_3986delinsCA
ENST00000675321.1:c.2158_2159delinsCA	ENSP00000502751.1:p.His720=
ENST00000675325.1:n.3954_3955delinsCA
ENST00000675335.1:c.2189_2190delinsCA	ENSP00000502182.1:n.2189_2190delinsCA
ENST00000675400.1:n.3831_3832delinsCA
ENST00000675406.1:c.2158_2159delinsCA	ENSP00000501893.1:p.His720=
ENST00000675458.1:c.2251_2252delinsCA	ENSP00000501754.1:n.2251_2252delinsCA
ENST00000675507.1:n.3954_3955delinsCA
ENST00000675535.1:c.2158_2159delinsCA	ENSP00000501667.1:p.His720=
ENST00000675566.1:n.3954_3955delinsCA
ENST00000675602.1:n.5206_5207delinsCA
ENST00000675647.1:n.2463_2464delinsCA
ENST00000675711.1:c.2158_2159delinsCA	ENSP00000502485.1:p.His720=
ENST00000675727.1:c.2158_2159delinsCA	ENSP00000501722.1:p.His720=
ENST00000675748.1:n.3792_3793delinsCA
ENST00000675765.1:c.2158_2159delinsCA	ENSP00000502640.1:p.His720=
ENST00000675825.1:c.2158_2159delinsCA	ENSP00000502632.1:p.His720=
ENST00000675877.1:n.2463_2464delinsCA
ENST00000675893.1:c.*3227_*3228delinsCA	ENSP00000502001.1:n.*3227_*3228delinsCA
ENST00000675943.1:n.5773_5774delinsCA
ENST00000675979.1:c.*1401_*1402delinsCA	ENSP00000502208.1:n.*1401_*1402delinsCA
ENST00000676044.1:c.2158_2159delinsCA	ENSP00000502378.1:p.His720=
ENST00000676086.1:n.3943_3944delinsCA
ENST00000676121.1:n.3986_3987delinsCA
ENST00000676237.1:c.2059_2060delinsCA	ENSP00000501828.1:p.His687=
ENST00000676416.1:c.1816_1817delinsCA	ENSP00000501660.1:p.His606=
ENST00000676424.1:n.3954_3955delinsCA
ENST00000676429.1:n.6627_6628delinsCA
ENST00000374647.9:c.2158_2159delinsCA	ENSP00000363779.5:p.His720=
ENST00000537196.1:c.1111_1112delinsCA	ENSP00000439367.1:p.His371=
NM_003640.3:c.2158_2159delinsCA , LRG_251t1:c.2158_2159delinsCA	NP_003631.2:p.His720=
XM_005252285.2:c.1816_1817delinsCA	XP_005252342.1:p.His606=
XM_011519136.1:c.2158_2159delinsCA	XP_011517438.1:p.His720=
XM_011519137.1:c.1816_1817delinsCA	XP_011517439.1:p.His606=
XR_929859.1:n.2474_2475delinsCA
NM_001318360.1:c.1816_1817delinsCA	NP_001305289.1:p.His606=
NM_001330749.1:c.1111_1112delinsCA	NP_001317678.1:p.His371=
NM_003640.4:c.2158_2159delinsCA	NP_003631.2:p.His720=
XM_011519136.2:c.2158_2159delinsCA	XP_011517438.1:p.His720=
XR_929859.3:n.2485_2486delinsCA
NM_003640.5:c.2158_2159delinsCA MANE Select	NP_003631.2:p.His720=
NM_001318360.2:c.1816_1817delinsCA	NP_001305289.1:p.His606=
NM_001330749.2:c.1111_1112delinsCA	NP_001317678.1:p.His371=