Canonical Allele Identifier: CA347399
Gene: DVL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1338001del , CM000663.2:g.1338001del GRCh38
NC_000001.10:g.1273381del , CM000663.1:g.1273381del GRCh37
NC_000001.9:g.1263244del NCBI36
NG_008048.1:g.16112del
NG_008048.2:g.16112del

Transcript Alleles

HGVS Amino-acid Change
NM_001330311.2:c.1690del MANE Select NP_001317240.1:p.Ser564AlafsTer?
ENST00000378888.10:c.1690del MANE Select ENSP00000368166.5:p.Ser564AlafsTer?
NM_001330311.1:c.1690del NP_001317240.1:p.Ser564AlafsTer?
NM_004421.2:c.1615del NP_004412.2:p.Ser539AlafsTer?
NM_004421.3:c.1615del NP_004412.2:p.Ser539AlafsTer?
ENST00000378888.9:c.1690del ENSP00000368166.5:p.Ser564AlafsTer?
ENST00000378891.9:c.1615del ENSP00000368169.5:p.Ser539AlafsTer?
ENST00000610709.2:c.937del ENSP00000480077.1:p.Ser313AlafsTer?
ENST00000631679.1:c.721del ENSP00000488181.1:p.Ser241AlafsTer10
ENST00000632445.1:c.619del ENSP00000488888.1:p.Ser207AlafsTer10
XM_005244731.2:c.1690del XP_005244788.1:p.Ser564AlafsTer?
XM_005244732.2:c.1690del XP_005244789.1:p.Ser564AlafsTer10
XM_005244732.4:c.1690del XP_005244789.1:p.Ser564AlafsTer10
XM_005244733.2:c.1615del XP_005244790.1:p.Ser539AlafsTer10
XM_005244733.4:c.1615del XP_005244790.1:p.Ser539AlafsTer10