Canonical Allele Identifier: CA13971579
Gene: EVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100120420A>G , CM000676.2:g.100120420A>G GRCh38
NC_000014.8:g.100586757A>G , CM000676.1:g.100586757A>G GRCh37
NC_000014.7:g.99656510A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000392920.8:c.359-3119A>G MANE Select ENSP00000376652.3:n.359-3119A>G
ENST00000392920.7:c.359-3119A>G ENSP00000376652.3:n.359-3119A>G
ENST00000402714.6:c.353-3119A>G ENSP00000384720.2:n.353-3119A>G
ENST00000544450.6:c.371-3119A>G ENSP00000437904.2:n.371-3119A>G
ENST00000553875.5:c.*60-3119A>G ENSP00000452156.1:n.*60-3119A>G
ENST00000553910.1:n.63-3119A>G
ENST00000554045.5:c.359-6287A>G ENSP00000451226.1:n.359-6287A>G
ENST00000555706.5:c.314-3119A>G ENSP00000450723.1:n.314-3119A>G
ENST00000557153.5:c.314-3119A>G ENSP00000452327.1:n.314-3119A>G
ENST00000557384.5:c.41-3119A>G ENSP00000450979.1:n.41-3119A>G
NM_016337.2:c.359-3119A>G NP_057421.1:n.359-3119A>G
XM_005267749.2:c.371-3119A>G XP_005267806.1:n.371-3119A>G
XM_011536826.1:c.314-3119A>G XP_011535128.1:n.314-3119A>G
XM_011536827.1:c.371-3119A>G XP_011535129.1:n.371-3119A>G
XM_011536828.1:c.371-3119A>G XP_011535130.1:n.371-3119A>G
XM_011536829.1:c.29-3119A>G XP_011535131.1:n.29-3119A>G
NM_001330221.1:c.353-3119A>G NP_001317150.1:n.353-3119A>G
XM_005267749.3:c.371-3119A>G XP_005267806.1:n.371-3119A>G
XM_011536828.2:c.371-3119A>G XP_011535130.1:n.371-3119A>G
XM_017021363.2:c.371-3119A>G XP_016876852.1:n.371-3119A>G
XR_001750355.1:n.1065-3119A>G
XR_001750356.1:n.1065-3119A>G
XR_001750357.2:n.1065-3119A>G
XR_001750359.2:n.497-3119A>G
XR_001750360.1:n.952-3119A>G
XR_001750361.1:n.399-3119A>G
XR_001750362.1:n.1065-3119A>G
XR_001750363.1:n.1065-3119A>G
XR_001750364.1:n.1065-3119A>G
XR_001750366.1:n.1065-3119A>G
XR_001750367.1:n.515-3119A>G
XR_002957557.1:n.1166-3119A>G
NM_016337.3:c.359-3119A>G MANE Select NP_057421.1:n.359-3119A>G
NM_001330221.2:c.353-3119A>G NP_001317150.1:n.353-3119A>G
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