Canonical Allele Identifier: CA915942975
Gene: DVL3 HGNC NCBI
EIF2B5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184170099del , CM000665.2:g.184170099del GRCh38
NC_000003.11:g.183887887del , CM000665.1:g.183887887del GRCh37
NC_000003.10:g.185370581del NCBI36
NG_046860.1:g.19789del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313143.9:c.1592del (DVL3) MANE Select ENSP00000316054.3:p.Pro531LeufsTer?
ENST00000431765.6:c.1541del (DVL3) ENSP00000405885.1:p.Pro514LeufsTer?
ENST00000649847.1:c.918del (DVL3) ENSP00000497654.1:n.918del
ENST00000313143.7:c.1592del (DVL3) ENSP00000316054.3:p.Pro531LeufsTer?
ENST00000431765.5:c.1541del (DVL3) ENSP00000405885.1:p.Pro514LeufsTer?
ENST00000444495.1:c.2106+25392del (EIF2B5) ENSP00000409142.1:n.2106+25392del
ENST00000478247.1:n.1592del (DVL3)
NM_004423.3:c.1592del (DVL3) NP_004414.3:p.Pro531LeufsTer?
XM_005247172.1:c.1592del (DVL3) XP_005247229.1:p.Pro531LeufsTer?
XM_011512513.1:c.1088del (DVL3) XP_011510815.1:p.Pro363LeufsTer?
NM_004423.4:c.1592del (DVL3) MANE Select NP_004414.3:p.Pro531LeufsTer?
XM_005247172.2:c.1592del (DVL3) XP_005247229.1:p.Pro531LeufsTer?
XM_011512513.2:c.1088del (DVL3) XP_011510815.1:p.Pro363LeufsTer?
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