Canonical Allele Identifier: CA1127936501

Gene: ELP1

Linked Data

• gnomAD v3: 9-108899665-G-GA
• gnomAD v4: 9-108899665-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899665_108899666insA , CM000671.2:g.108899665_108899666insA	GRCh38
NC_000009.11:g.111661945_111661946insA , CM000671.1:g.111661945_111661946insA	GRCh37
NC_000009.10:g.110701766_110701767insA	NCBI36
NG_008788.1:g.39663_39664insT , LRG_251:g.39663_39664insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2204+156_2204+157insT MANE Select	ENSP00000363779.5:n.2204+156_2204+157insT
ENST00000495759.6:c.*814+156_*814+157insT	ENSP00000433514.2:n.*814+156_*814+157insT
ENST00000674535.1:c.2204+156_2204+157insT	ENSP00000502142.1:n.2204+156_2204+157insT
ENST00000674704.1:n.4011+156_4011+157insT
ENST00000674836.1:n.2509+156_2509+157insT
ENST00000674890.1:c.2204+156_2204+157insT	ENSP00000501870.1:n.2204+156_2204+157insT
ENST00000674938.1:c.1862+156_1862+157insT	ENSP00000502427.1:n.1862+156_1862+157insT
ENST00000674948.1:c.1862+156_1862+157insT	ENSP00000501602.1:n.1862+156_1862+157insT
ENST00000675052.1:c.2204+156_2204+157insT	ENSP00000502664.1:n.2204+156_2204+157insT
ENST00000675078.1:c.2204+156_2204+157insT	ENSP00000501549.1:n.2204+156_2204+157insT
ENST00000675215.1:c.*1428+156_*1428+157insT	ENSP00000502558.1:n.*1428+156_*1428+157insT
ENST00000675233.1:n.4031+156_4031+157insT
ENST00000675321.1:c.2204+156_2204+157insT	ENSP00000502751.1:n.2204+156_2204+157insT
ENST00000675325.1:n.4000+156_4000+157insT
ENST00000675335.1:c.2235+156_2235+157insT	ENSP00000502182.1:n.2235+156_2235+157insT
ENST00000675400.1:n.3877+156_3877+157insT
ENST00000675406.1:c.2204+156_2204+157insT	ENSP00000501893.1:n.2204+156_2204+157insT
ENST00000675458.1:c.2297+156_2297+157insT	ENSP00000501754.1:n.2297+156_2297+157insT
ENST00000675507.1:n.4000+156_4000+157insT
ENST00000675535.1:c.2204+156_2204+157insT	ENSP00000501667.1:n.2204+156_2204+157insT
ENST00000675566.1:n.4000+156_4000+157insT
ENST00000675602.1:n.5252+156_5252+157insT
ENST00000675647.1:n.2509+156_2509+157insT
ENST00000675711.1:c.2204+156_2204+157insT	ENSP00000502485.1:n.2204+156_2204+157insT
ENST00000675727.1:c.2204+156_2204+157insT	ENSP00000501722.1:n.2204+156_2204+157insT
ENST00000675748.1:n.3838+156_3838+157insT
ENST00000675765.1:c.2204+156_2204+157insT	ENSP00000502640.1:n.2204+156_2204+157insT
ENST00000675825.1:c.2204+156_2204+157insT	ENSP00000502632.1:n.2204+156_2204+157insT
ENST00000675877.1:n.2509+156_2509+157insT
ENST00000675893.1:c.*3273+156_*3273+157insT	ENSP00000502001.1:n.*3273+156_*3273+157insT
ENST00000675943.1:n.5819+156_5819+157insT
ENST00000675979.1:c.*1447+156_*1447+157insT	ENSP00000502208.1:n.*1447+156_*1447+157insT
ENST00000676044.1:c.2204+156_2204+157insT	ENSP00000502378.1:n.2204+156_2204+157insT
ENST00000676086.1:n.3989+156_3989+157insT
ENST00000676121.1:n.4032+156_4032+157insT
ENST00000676237.1:c.2105+156_2105+157insT	ENSP00000501828.1:n.2105+156_2105+157insT
ENST00000676416.1:c.1862+156_1862+157insT	ENSP00000501660.1:n.1862+156_1862+157insT
ENST00000676424.1:n.4000+156_4000+157insT
ENST00000676429.1:n.6673+156_6673+157insT
ENST00000374647.9:c.2204+156_2204+157insT	ENSP00000363779.5:n.2204+156_2204+157insT
ENST00000537196.1:c.1157+156_1157+157insT	ENSP00000439367.1:n.1157+156_1157+157insT
NM_003640.3:c.2204+156_2204+157insT , LRG_251t1:c.2204+156_2204+157insT	NP_003631.2:n.2204+156_2204+157insT
XM_005252285.2:c.1862+156_1862+157insT	XP_005252342.1:n.1862+156_1862+157insT
XM_011519136.1:c.2204+156_2204+157insT	XP_011517438.1:n.2204+156_2204+157insT
XM_011519137.1:c.1862+156_1862+157insT	XP_011517439.1:n.1862+156_1862+157insT
XR_929859.1:n.2520+156_2520+157insT
NM_001318360.1:c.1862+156_1862+157insT	NP_001305289.1:n.1862+156_1862+157insT
NM_001330749.1:c.1157+156_1157+157insT	NP_001317678.1:n.1157+156_1157+157insT
NM_003640.4:c.2204+156_2204+157insT	NP_003631.2:n.2204+156_2204+157insT
XM_011519136.2:c.2204+156_2204+157insT	XP_011517438.1:n.2204+156_2204+157insT
XR_929859.3:n.2531+156_2531+157insT
NM_003640.5:c.2204+156_2204+157insT MANE Select	NP_003631.2:n.2204+156_2204+157insT
NM_001318360.2:c.1862+156_1862+157insT	NP_001305289.1:n.1862+156_1862+157insT
NM_001330749.2:c.1157+156_1157+157insT	NP_001317678.1:n.1157+156_1157+157insT