Canonical Allele Identifier: CA2580616285
Gene: ELP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1946630
ClinVar RCV Id: RCV002681127

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108899820_108899823del , CM000671.2:g.108899820_108899823del GRCh38
NC_000009.11:g.111662100_111662103del , CM000671.1:g.111662100_111662103del GRCh37
NC_000009.10:g.110701921_110701924del NCBI36
NG_008788.1:g.39510_39513del , LRG_251:g.39510_39513del

Transcript Alleles

HGVS Amino-acid change
ENST00000374647.10:c.2204+3_2204+6del
ENST00000495759.6:c.*814+3_*814+6del
ENST00000674535.1:c.2204+3_2204+6del
ENST00000674704.1:n.4011+3_4011+6del
ENST00000674836.1:n.2509+3_2509+6del
ENST00000674890.1:c.2204+3_2204+6del
ENST00000674938.1:c.1862+3_1862+6del
ENST00000674948.1:c.1862+3_1862+6del
ENST00000675052.1:c.2204+3_2204+6del
ENST00000675078.1:c.2204+3_2204+6del
ENST00000675215.1:c.*1428+3_*1428+6del
ENST00000675233.1:n.4031+3_4031+6del
ENST00000675321.1:c.2204+3_2204+6del
ENST00000675325.1:n.4000+3_4000+6del
ENST00000675335.1:c.2235+3_2235+6del
ENST00000675400.1:n.3877+3_3877+6del
ENST00000675406.1:c.2204+3_2204+6del
ENST00000675458.1:c.2297+3_2297+6del
ENST00000675507.1:n.4000+3_4000+6del
ENST00000675535.1:c.2204+3_2204+6del
ENST00000675566.1:n.4000+3_4000+6del
ENST00000675602.1:n.5252+3_5252+6del
ENST00000675647.1:n.2509+3_2509+6del
ENST00000675711.1:c.2204+3_2204+6del
ENST00000675727.1:c.2204+3_2204+6del
ENST00000675748.1:n.3838+3_3838+6del
ENST00000675765.1:c.2204+3_2204+6del
ENST00000675825.1:c.2204+3_2204+6del
ENST00000675877.1:n.2509+3_2509+6del
ENST00000675893.1:c.*3273+3_*3273+6del
ENST00000675943.1:n.5819+3_5819+6del
ENST00000675979.1:c.*1447+3_*1447+6del
ENST00000676044.1:c.2204+3_2204+6del
ENST00000676086.1:n.3989+3_3989+6del
ENST00000676121.1:n.4032+3_4032+6del
ENST00000676237.1:c.2105+3_2105+6del
ENST00000676416.1:c.1862+3_1862+6del
ENST00000676424.1:n.4000+3_4000+6del
ENST00000676429.1:n.6673+3_6673+6del
ENST00000374647.9:c.2204+3_2204+6del
ENST00000537196.1:c.1157+3_1157+6del
NM_003640.3:c.2204+3_2204+6del , LRG_251t1:c.2204+3_2204+6del
XM_005252285.2:c.1862+3_1862+6del
XM_011519136.1:c.2204+3_2204+6del
XM_011519137.1:c.1862+3_1862+6del
XR_929859.1:n.2520+3_2520+6del
NM_001318360.1:c.1862+3_1862+6del
NM_001330749.1:c.1157+3_1157+6del
NM_003640.4:c.2204+3_2204+6del
XM_011519136.2:c.2204+3_2204+6del
XR_929859.3:n.2531+3_2531+6del
NM_003640.5:c.2204+3_2204+6del
NM_001318360.2:c.1862+3_1862+6del
NM_001330749.2:c.1157+3_1157+6del