Canonical Allele Identifier: CA2982338

Gene: PRDM8

Linked Data

• ClinVar Variation Id: 1414646
• ClinVar RCV Id: RCV001930580
• dbSNP Id: rs763199170
• ExAC: 4:81123474 TAGCGGC / T
• gnomAD v2: 4-81123474-TAGCGGC-T
• gnomAD v3: 4-80202320-TAGCGGC-T
• gnomAD v4: 4-80202320-TAGCGGC-T
• MyVariant Identifiers: chr4:g.81123475_81123480del (hg19) ; chr4:g.80202321_80202326del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80202327_80202332del , CM000666.2:g.80202327_80202332del	GRCh38
NC_000004.11:g.81123481_81123486del , CM000666.1:g.81123481_81123486del	GRCh37
NC_000004.10:g.81342505_81342510del	NCBI36
NG_046725.1:g.22058_22063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415738.3:c.865_870del MANE Select	ENSP00000406998.2:p.Ser289_Gly290del
ENST00000339711.8:c.865_870del	ENSP00000339764.4:p.Ser289_Gly290del
ENST00000415738.2:c.865_870del	ENSP00000406998.2:p.Ser289_Gly290del
ENST00000504452.5:c.865_870del	ENSP00000423985.1:p.Ser289_Gly290del
ENST00000515013.5:c.865_870del	ENSP00000425149.1:p.Ser289_Gly290del
NM_001099403.1:c.865_870del	NP_001092873.1:p.Ser289_Gly290del
NM_020226.3:c.865_870del	NP_064611.3:p.Ser289_Gly290del
XM_005263144.2:c.868_873del	XP_005263201.1:p.Ser290_Gly291del
XM_005263145.2:c.868_873del	XP_005263202.1:p.Ser290_Gly291del
XM_005263146.3:c.865_870del	XP_005263203.1:p.Ser289_Gly290del
XM_011532133.1:c.1708_1713del	XP_011530435.1:p.Ser570_Gly571del
XM_011532134.1:c.1705_1710del	XP_011530436.1:p.Ser569_Gly570del
XM_011532135.1:c.1567_1572del	XP_011530437.1:p.Ser523_Gly524del
XM_011532136.1:c.1420_1425del	XP_011530438.1:p.Ser474_Gly475del
XM_011532137.1:c.1420_1425del	XP_011530439.1:p.Ser474_Gly475del
XM_011532138.1:c.1420_1425del	XP_011530440.1:p.Ser474_Gly475del
XM_011532139.1:c.1420_1425del	XP_011530441.1:p.Ser474_Gly475del
XM_011532140.1:c.1420_1425del	XP_011530442.1:p.Ser474_Gly475del
XM_011532141.1:c.1282_1287del	XP_011530443.1:p.Ser428_Gly429del
XM_011532142.1:c.1261_1266del	XP_011530444.1:p.Ser421_Gly422del
XM_005263146.4:c.865_870del	XP_005263203.1:p.Ser289_Gly290del
XM_011532133.2:c.1708_1713del	XP_011530435.1:p.Ser570_Gly571del
XM_011532135.2:c.1567_1572del	XP_011530437.1:p.Ser523_Gly524del
XM_011532140.2:c.1420_1425del	XP_011530442.1:p.Ser474_Gly475del
XM_011532141.3:c.1282_1287del	XP_011530443.1:p.Ser428_Gly429del
XM_017008468.1:c.1417_1422del	XP_016863957.1:p.Ser473_Gly474del
XM_017008469.1:c.1504_1509del	XP_016863958.1:p.Ser502_Gly503del
XM_017008470.1:c.1420_1425del	XP_016863959.1:p.Ser474_Gly475del
NM_001099403.2:c.865_870del MANE Select	NP_001092873.1:p.Ser289_Gly290del
NM_020226.4:c.865_870del	NP_064611.3:p.Ser289_Gly290del