Canonical Allele Identifier: CA16043792

Gene: DIABLO B3GNT4

Linked Data

• ClinVar Variation Id: 374551
• ClinVar RCV Id: RCV000416149 ; RCV001375339
• dbSNP Id: rs1057519151
• MyVariant Identifiers: chr12:g.122692936_122692946del (hg19) ; chr12:g.122208389_122208399del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.122208389_122208399del , CM000674.2:g.122208389_122208399del	GRCh38
NC_000012.11:g.122692936_122692946del , CM000674.1:g.122692936_122692946del	GRCh37
NC_000012.10:g.121258889_121258899del	NCBI36
NG_029459.1:g.24123_24133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267169.11:c.*158_*168del (DIABLO)	ENSP00000267169.7:n.*158_*168del
ENST00000324189.5:c.*1001_*1011del (B3GNT4) MANE Select	ENSP00000319636.4:n.*1001_*1011del
ENST00000353548.11:c.570_580del (DIABLO)	ENSP00000320343.6:p.Tyr191GlyfsTer5
ENST00000439489.6:c.573_583del (DIABLO)	ENSP00000390818.2:n.573_583del
ENST00000443649.9:c.483_493del (DIABLO)	ENSP00000398495.4:p.Tyr162GlyfsTer5
ENST00000464942.7:c.702_712del (DIABLO) MANE Select	ENSP00000442360.2:p.Tyr235GlyfsTer5
ENST00000489781.3:n.1307_1317del (DIABLO)
ENST00000540535.6:c.*616_*626del (DIABLO)	ENSP00000441139.2:n.*616_*626del
ENST00000642640.1:n.2546_2556del (DIABLO)
ENST00000644227.1:c.*482_*492del (DIABLO)	ENSP00000494535.1:n.*482_*492del
ENST00000644509.1:n.1937_1947del (DIABLO)
ENST00000645569.1:n.2030_2040del (DIABLO)
ENST00000645606.1:c.*1117_*1127del	ENSP00000493911.1:n.*1117_*1127del
ENST00000650715.1:c.702_712del (DIABLO)	ENSP00000499058.1:p.Tyr235GlyfsTer5
ENST00000267169.10:c.543_553del (DIABLO)	ENSP00000267169.6:p.Tyr182GlyfsTer5
ENST00000342392.3:c.*532_*542del (DIABLO)	ENSP00000339963.3:n.*532_*542del
ENST00000353548.10:c.570_580del (DIABLO)	ENSP00000320343.6:p.Tyr191GlyfsTer5
ENST00000413918.5:c.483_493del (DIABLO)	ENSP00000411638.2:p.Tyr162GlyfsTer5
ENST00000439489.5:c.551_561del (DIABLO)
ENST00000443649.7:c.702_712del (DIABLO)	ENSP00000398495.3:p.Tyr235GlyfsTer5
ENST00000464942.6:c.543_553del (DIABLO)	ENSP00000442360.1:p.Tyr182GlyfsTer5
ENST00000535844.1:c.*496_*506del	ENSP00000454454.1:n.*496_*506del
ENST00000545141.1:n.191-91_191-81del (B3GNT4)
ENST00000546192.1:c.*1001_*1011del (B3GNT4)	ENSP00000438840.1:n.*1001_*1011del
NM_001278302.1:c.411_421del (DIABLO)	NP_001265231.1:p.Tyr138GlyfsTer5
NM_001278303.1:c.483_493del (DIABLO)	NP_001265232.1:p.Tyr162GlyfsTer5
NM_001278304.1:c.543_553del (DIABLO)	NP_001265233.1:p.Tyr182GlyfsTer5
NM_001278342.1:c.570_580del (DIABLO)	NP_001265271.1:p.Tyr191GlyfsTer5
NM_019887.5:c.702_712del (DIABLO)	NP_063940.1:p.Tyr235GlyfsTer5
NM_138930.3:c.543_553del (DIABLO)	NP_620308.1:p.Tyr182GlyfsTer5
NM_001330492.1:c.*1001_*1011del (B3GNT4)	NP_001317421.1:n.*1001_*1011del
NM_030765.3:c.*1001_*1011del (B3GNT4)	NP_110392.1:n.*1001_*1011del
NM_030765.4:c.*1001_*1011del (B3GNT4) MANE Select	NP_110392.1:n.*1001_*1011del
NM_001278304.2:c.543_553del (DIABLO)	NP_001265233.1:p.Tyr182GlyfsTer5
NM_001371333.1:c.702_712del (DIABLO) MANE Select	NP_001358262.1:p.Tyr235GlyfsTer5
NM_019887.6:c.702_712del (DIABLO)	NP_063940.1:p.Tyr235GlyfsTer5
NM_001330492.2:c.*1001_*1011del (B3GNT4)	NP_001317421.1:n.*1001_*1011del