Canonical Allele Identifier: CA645293793
Gene: PRDM16 HGNC NCBI

Linked Data

ClinVar Variation Id: 426516
ClinVar RCV Id: RCV000489128
dbSNP Id: rs1085307663
MyVariant Identifiers: chr1:g.3328220del (hg19) chr1:g.3411656del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.3411656del , CM000663.2:g.3411656del GRCh38
NC_000001.10:g.3328220del , CM000663.1:g.3328220del GRCh37
NC_000001.9:g.3318080del NCBI36
NG_029576.1:g.347479del
NG_029576.2:g.347479del

Transcript Alleles

HGVS Amino-acid change
ENST00000270722.10:c.1459del MANE Select ENSP00000270722.5:p.Glu487SerfsTer?
ENST00000270722.9:c.1459del ENSP00000270722.5:p.Glu487SerfsTer?
ENST00000378391.6:c.1459del ENSP00000367643.2:p.Glu487SerfsTer?
ENST00000509860.1:c.886del ENSP00000425796.1:p.Glu296SerfsTer?
ENST00000511072.5:c.1462del ENSP00000426975.1:p.Glu488SerfsTer?
ENST00000512462.5:n.1237del
ENST00000514189.5:c.1462del ENSP00000421400.1:p.Glu488SerfsTer?
NM_022114.3:c.1459del NP_071397.3:p.Glu487SerfsTer?
NM_199454.2:c.1459del NP_955533.2:p.Glu487SerfsTer?
XM_005244772.3:c.1462del XP_005244829.1:p.Glu488SerfsTer?
XM_005244773.3:c.1462del XP_005244830.1:p.Glu488SerfsTer?
XM_005244774.3:c.1462del XP_005244831.1:p.Glu488SerfsTer?
XM_006710814.2:c.1462del XP_006710877.1:p.Glu488SerfsTer?
XM_011541944.1:c.1462del XP_011540246.1:p.Glu488SerfsTer?
XM_011541945.1:c.907del XP_011540247.1:p.Glu303SerfsTer?
XM_005244772.5:c.1462del XP_005244829.1:p.Glu488SerfsTer?
XM_005244773.5:c.1462del XP_005244830.1:p.Glu488SerfsTer?
XM_005244774.5:c.1462del XP_005244831.1:p.Glu488SerfsTer?
XM_006710814.4:c.1462del XP_006710877.1:p.Glu488SerfsTer?
XM_011541945.2:c.907del XP_011540247.1:p.Glu303SerfsTer?
XM_017002050.1:c.1459del XP_016857539.1:p.Glu487SerfsTer?
NM_022114.4:c.1459del MANE Select NP_071397.3:p.Glu487SerfsTer?
NM_199454.3:c.1459del NP_955533.2:p.Glu487SerfsTer?
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