Canonical Allele Identifier: CA1139655453

Gene: DVL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1336141_1336158del , CM000663.2:g.1336141_1336158del	GRCh38
NC_000001.10:g.1271521_1271538del , CM000663.1:g.1271521_1271538del	GRCh37
NC_000001.9:g.1261384_1261401del	NCBI36
NG_008048.1:g.17961_17978del
NG_008048.2:g.17961_17978del

Transcript Alleles

HGVS	Amino-acid Change
NM_001330311.2:c.2078_*7del MANE Select	NP_001317240.1:n.[c.2078_*7del;Asp693AlafsTer?]
ENST00000378888.10:c.2078_*7del MANE Select	ENSP00000368166.5:n.[c.2078_*7del;Asp693AlafsTer?]
NM_001330311.1:c.2078_*7del	NP_001317240.1:n.[c.2078_*7del;Asp693AlafsTer?]
NM_004421.2:c.2003_*7del	NP_004412.2:n.[c.2003_*7del;Asp668AlafsTer?]
NM_004421.3:c.2003_*7del	NP_004412.2:n.[c.2003_*7del;Asp668AlafsTer?]
ENST00000378888.9:c.2078_*7del	ENSP00000368166.5:n.[c.2078_*7del;Asp693AlafsTer?]
ENST00000378891.9:c.2003_*7del	ENSP00000368169.5:n.[c.2003_*7del;Asp668AlafsTer?]
ENST00000610709.2:c.1325_*7del	ENSP00000480077.1:n.[c.1325_*7del;Asp442AlafsTer?]
XM_005244731.2:c.2078_*7del	XP_005244788.1:n.[c.2078_*7del;Asp693AlafsTer?]
XM_005244732.4:c.*391_*408del	XP_005244789.1:n.*391_*408del
XM_005244733.4:c.*391_*408del	XP_005244790.1:n.*391_*408del