Canonical Allele Identifier: CA16042290
Gene: DVL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373812
ClinVar RCV Id: RCV000413003
dbSNP Id: rs1057518627
MyVariant Identifiers: chr1:g.1273910_1273917dupGCATTGGC (hg19) chr1:g.1273909_1273910insGCATTGGC (hg19) chr1:g.1338530_1338537dupGCATTGGC (hg38) chr1:g.1338529_1338530insGCATTGGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1338531_1338538dup , CM000663.2:g.1338531_1338538dup GRCh38
NC_000001.10:g.1273911_1273918dup , CM000663.1:g.1273911_1273918dup GRCh37
NC_000001.9:g.1263774_1263781dup NCBI36
NG_008048.1:g.15576_15583dup
NG_008048.2:g.15576_15583dup

Transcript Alleles

HGVS Amino-acid change
ENST00000378888.10:c.1324_1331dup MANE Select ENSP00000368166.5:p.Val445ProfsTer?
ENST00000378888.9:c.1324_1331dup ENSP00000368166.5:p.Val445ProfsTer?
ENST00000378891.9:c.1249_1256dup ENSP00000368169.5:p.Val420ProfsTer?
ENST00000610709.2:c.651-165_651-158dup ENSP00000480077.1:n.651-165_651-158dup
ENST00000631679.1:c.355_362dup ENSP00000488181.1:p.Val122ProfsTer?
ENST00000632445.1:c.253_260dup ENSP00000488888.1:p.Val88ProfsTer?
ENST00000634054.1:n.710_717dup
NM_004421.2:c.1249_1256dup NP_004412.2:p.Val420ProfsTer?
XM_005244731.2:c.1324_1331dup XP_005244788.1:p.Val445ProfsTer?
XM_005244732.2:c.1324_1331dup XP_005244789.1:p.Val445ProfsTer?
XM_005244733.2:c.1249_1256dup XP_005244790.1:p.Val420ProfsTer?
NM_001330311.1:c.1324_1331dup NP_001317240.1:p.Val445ProfsTer?
XM_005244732.4:c.1324_1331dup XP_005244789.1:p.Val445ProfsTer?
XM_005244733.4:c.1249_1256dup XP_005244790.1:p.Val420ProfsTer?
NM_001330311.2:c.1324_1331dup MANE Select NP_001317240.1:p.Val445ProfsTer?
NM_004421.3:c.1249_1256dup NP_004412.2:p.Val420ProfsTer?
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