Canonical Allele Identifier: CA274994
Gene: B3GLCT HGNC NCBI

Linked Data

ClinVar Variation Id: 194286
ClinVar RCV Id: RCV000174621
dbSNP Id: rs794727108
MyVariant Identifiers: chr13:g.31891705_31891720del (hg19) chr13:g.31317568_31317583del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31317568_31317583del , CM000675.2:g.31317568_31317583del GRCh38
NC_000013.10:g.31891705_31891720del , CM000675.1:g.31891705_31891720del GRCh37
NC_000013.9:g.30789705_30789720del NCBI36
NG_011732.1:g.122594_122609del
NG_011732.2:g.122594_122609del

Transcript Alleles

HGVS Amino-acid change
ENST00000343307.5:c.1067_1082del MANE Select ENSP00000343002.4:p.Ile356ThrfsTer?
ENST00000343307.4:c.1067_1082del ENSP00000343002.4:p.Ile356ThrfsTer?
NM_194318.3:c.1067_1082del NP_919299.3:p.Ile356ThrfsTer?
XM_006719768.2:c.1010_1025del XP_006719831.1:p.Ile337ThrfsTer?
XM_011534936.1:c.1065-6183_1065-6168del XP_011533238.1:n.1065-6183_1065-6168del
XM_011534937.1:c.947_962del XP_011533239.1:p.Ile316ThrfsTer?
XM_011534938.1:c.920_935del XP_011533240.1:p.Ile307ThrfsTer?
XR_941500.1:n.1252_1267del
XR_941501.1:n.1132_1147del
XM_006719768.3:c.1010_1025del XP_006719831.1:p.Ile337ThrfsTer?
XM_011534938.2:c.920_935del XP_011533240.1:p.Ile307ThrfsTer?
XM_017020395.1:c.920_935del XP_016875884.1:p.Ile307ThrfsTer?
NM_194318.4:c.1067_1082del MANE Select NP_919299.3:p.Ile356ThrfsTer?
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