Canonical Allele Identifier: CA2691095829
Gene: ELP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108899815_108899851del , CM000671.2:g.108899815_108899851del GRCh38
NC_000009.11:g.111662095_111662131del , CM000671.1:g.111662095_111662131del GRCh37
NC_000009.10:g.110701916_110701952del NCBI36
NG_008788.1:g.39478_39514del , LRG_251:g.39478_39514del

Transcript Alleles

HGVS Amino-acid change
ENST00000374647.10:c.2175_2204+7del
ENST00000495759.6:c.*785_*814+7del
ENST00000674535.1:c.2175_2204+7del
ENST00000674704.1:n.3982_4011+7del
ENST00000674836.1:n.2480_2509+7del
ENST00000674890.1:c.2175_2204+7del
ENST00000674938.1:c.1833_1862+7del
ENST00000674948.1:c.1833_1862+7del
ENST00000675052.1:c.2175_2204+7del
ENST00000675078.1:c.2175_2204+7del
ENST00000675215.1:c.*1399_*1428+7del
ENST00000675233.1:n.4002_4031+7del
ENST00000675321.1:c.2175_2204+7del
ENST00000675325.1:n.3971_4000+7del
ENST00000675335.1:c.2206_2235+7del
ENST00000675400.1:n.3848_3877+7del
ENST00000675406.1:c.2175_2204+7del
ENST00000675458.1:c.2268_2297+7del
ENST00000675507.1:n.3971_4000+7del
ENST00000675535.1:c.2175_2204+7del
ENST00000675566.1:n.3971_4000+7del
ENST00000675602.1:n.5223_5252+7del
ENST00000675647.1:n.2480_2509+7del
ENST00000675711.1:c.2175_2204+7del
ENST00000675727.1:c.2175_2204+7del
ENST00000675748.1:n.3809_3838+7del
ENST00000675765.1:c.2175_2204+7del
ENST00000675825.1:c.2175_2204+7del
ENST00000675877.1:n.2480_2509+7del
ENST00000675893.1:c.*3244_*3273+7del
ENST00000675943.1:n.5790_5819+7del
ENST00000675979.1:c.*1418_*1447+7del
ENST00000676044.1:c.2175_2204+7del
ENST00000676086.1:n.3960_3989+7del
ENST00000676121.1:n.4003_4032+7del
ENST00000676237.1:c.2076_2105+7del
ENST00000676416.1:c.1833_1862+7del
ENST00000676424.1:n.3971_4000+7del
ENST00000676429.1:n.6644_6673+7del
ENST00000374647.9:c.2175_2204+7del
ENST00000537196.1:c.1128_1157+7del
NM_003640.3:c.2175_2204+7del , LRG_251t1:c.2175_2204+7del
XM_005252285.2:c.1833_1862+7del
XM_011519136.1:c.2175_2204+7del
XM_011519137.1:c.1833_1862+7del
XR_929859.1:n.2491_2520+7del
NM_001318360.1:c.1833_1862+7del
NM_001330749.1:c.1128_1157+7del
NM_003640.4:c.2175_2204+7del
XM_011519136.2:c.2175_2204+7del
XR_929859.3:n.2502_2531+7del
NM_003640.5:c.2175_2204+7del
NM_001318360.2:c.1833_1862+7del
NM_001330749.2:c.1128_1157+7del