Canonical Allele Identifier: CA2691095745

Gene: ELP1

Linked Data

• gnomAD v4: 9-108899681-AGAGCCTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899682_108899689del , CM000671.2:g.108899682_108899689del	GRCh38
NC_000009.11:g.111661962_111661969del , CM000671.1:g.111661962_111661969del	GRCh37
NC_000009.10:g.110701783_110701790del	NCBI36
NG_008788.1:g.39640_39647del , LRG_251:g.39640_39647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2204+133_2204+140del MANE Select	ENSP00000363779.5:n.2204+133_2204+140del
ENST00000495759.6:c.*814+133_*814+140del	ENSP00000433514.2:n.*814+133_*814+140del
ENST00000674535.1:c.2204+133_2204+140del	ENSP00000502142.1:n.2204+133_2204+140del
ENST00000674704.1:n.4011+133_4011+140del
ENST00000674836.1:n.2509+133_2509+140del
ENST00000674890.1:c.2204+133_2204+140del	ENSP00000501870.1:n.2204+133_2204+140del
ENST00000674938.1:c.1862+133_1862+140del	ENSP00000502427.1:n.1862+133_1862+140del
ENST00000674948.1:c.1862+133_1862+140del	ENSP00000501602.1:n.1862+133_1862+140del
ENST00000675052.1:c.2204+133_2204+140del	ENSP00000502664.1:n.2204+133_2204+140del
ENST00000675078.1:c.2204+133_2204+140del	ENSP00000501549.1:n.2204+133_2204+140del
ENST00000675215.1:c.*1428+133_*1428+140del	ENSP00000502558.1:n.*1428+133_*1428+140del
ENST00000675233.1:n.4031+133_4031+140del
ENST00000675321.1:c.2204+133_2204+140del	ENSP00000502751.1:n.2204+133_2204+140del
ENST00000675325.1:n.4000+133_4000+140del
ENST00000675335.1:c.2235+133_2235+140del	ENSP00000502182.1:n.2235+133_2235+140del
ENST00000675400.1:n.3877+133_3877+140del
ENST00000675406.1:c.2204+133_2204+140del	ENSP00000501893.1:n.2204+133_2204+140del
ENST00000675458.1:c.2297+133_2297+140del	ENSP00000501754.1:n.2297+133_2297+140del
ENST00000675507.1:n.4000+133_4000+140del
ENST00000675535.1:c.2204+133_2204+140del	ENSP00000501667.1:n.2204+133_2204+140del
ENST00000675566.1:n.4000+133_4000+140del
ENST00000675602.1:n.5252+133_5252+140del
ENST00000675647.1:n.2509+133_2509+140del
ENST00000675711.1:c.2204+133_2204+140del	ENSP00000502485.1:n.2204+133_2204+140del
ENST00000675727.1:c.2204+133_2204+140del	ENSP00000501722.1:n.2204+133_2204+140del
ENST00000675748.1:n.3838+133_3838+140del
ENST00000675765.1:c.2204+133_2204+140del	ENSP00000502640.1:n.2204+133_2204+140del
ENST00000675825.1:c.2204+133_2204+140del	ENSP00000502632.1:n.2204+133_2204+140del
ENST00000675877.1:n.2509+133_2509+140del
ENST00000675893.1:c.*3273+133_*3273+140del	ENSP00000502001.1:n.*3273+133_*3273+140del
ENST00000675943.1:n.5819+133_5819+140del
ENST00000675979.1:c.*1447+133_*1447+140del	ENSP00000502208.1:n.*1447+133_*1447+140del
ENST00000676044.1:c.2204+133_2204+140del	ENSP00000502378.1:n.2204+133_2204+140del
ENST00000676086.1:n.3989+133_3989+140del
ENST00000676121.1:n.4032+133_4032+140del
ENST00000676237.1:c.2105+133_2105+140del	ENSP00000501828.1:n.2105+133_2105+140del
ENST00000676416.1:c.1862+133_1862+140del	ENSP00000501660.1:n.1862+133_1862+140del
ENST00000676424.1:n.4000+133_4000+140del
ENST00000676429.1:n.6673+133_6673+140del
ENST00000374647.9:c.2204+133_2204+140del	ENSP00000363779.5:n.2204+133_2204+140del
ENST00000537196.1:c.1157+133_1157+140del	ENSP00000439367.1:n.1157+133_1157+140del
NM_003640.3:c.2204+133_2204+140del , LRG_251t1:c.2204+133_2204+140del	NP_003631.2:n.2204+133_2204+140del
XM_005252285.2:c.1862+133_1862+140del	XP_005252342.1:n.1862+133_1862+140del
XM_011519136.1:c.2204+133_2204+140del	XP_011517438.1:n.2204+133_2204+140del
XM_011519137.1:c.1862+133_1862+140del	XP_011517439.1:n.1862+133_1862+140del
XR_929859.1:n.2520+133_2520+140del
NM_001318360.1:c.1862+133_1862+140del	NP_001305289.1:n.1862+133_1862+140del
NM_001330749.1:c.1157+133_1157+140del	NP_001317678.1:n.1157+133_1157+140del
NM_003640.4:c.2204+133_2204+140del	NP_003631.2:n.2204+133_2204+140del
XM_011519136.2:c.2204+133_2204+140del	XP_011517438.1:n.2204+133_2204+140del
XR_929859.3:n.2531+133_2531+140del
NM_003640.5:c.2204+133_2204+140del MANE Select	NP_003631.2:n.2204+133_2204+140del
NM_001318360.2:c.1862+133_1862+140del	NP_001305289.1:n.1862+133_1862+140del
NM_001330749.2:c.1157+133_1157+140del	NP_001317678.1:n.1157+133_1157+140del