Canonical Allele Identifier: CA2556480020

Gene: PRDM8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80202389_80202390del , CM000666.2:g.80202389_80202390del	GRCh38
NC_000004.11:g.81123543_81123544del , CM000666.1:g.81123543_81123544del	GRCh37
NC_000004.10:g.81342567_81342568del	NCBI36
NG_046725.1:g.22120_22121del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415738.3:c.927_928del MANE Select	ENSP00000406998.2:p.Gly310GlnfsTer?
ENST00000339711.8:c.927_928del	ENSP00000339764.4:p.Gly310GlnfsTer?
ENST00000415738.2:c.927_928del	ENSP00000406998.2:p.Gly310GlnfsTer?
ENST00000504452.5:c.927_928del	ENSP00000423985.1:p.Gly310GlnfsTer?
ENST00000515013.5:c.927_928del	ENSP00000425149.1:p.Gly310GlnfsTer?
NM_001099403.1:c.927_928del	NP_001092873.1:p.Gly310GlnfsTer?
NM_020226.3:c.927_928del	NP_064611.3:p.Gly310GlnfsTer?
XM_005263144.2:c.930_931del	XP_005263201.1:p.Gly311GlnfsTer?
XM_005263145.2:c.930_931del	XP_005263202.1:p.Gly311GlnfsTer?
XM_005263146.3:c.927_928del	XP_005263203.1:p.Gly310GlnfsTer?
XM_011532133.1:c.1770_1771del	XP_011530435.1:p.Gly591GlnfsTer?
XM_011532134.1:c.1767_1768del	XP_011530436.1:p.Gly590GlnfsTer?
XM_011532135.1:c.1629_1630del	XP_011530437.1:p.Gly544GlnfsTer?
XM_011532136.1:c.1482_1483del	XP_011530438.1:p.Gly495GlnfsTer?
XM_011532137.1:c.1482_1483del	XP_011530439.1:p.Gly495GlnfsTer?
XM_011532138.1:c.1482_1483del	XP_011530440.1:p.Gly495GlnfsTer?
XM_011532139.1:c.1482_1483del	XP_011530441.1:p.Gly495GlnfsTer?
XM_011532140.1:c.1482_1483del	XP_011530442.1:p.Gly495GlnfsTer?
XM_011532141.1:c.1344_1345del	XP_011530443.1:p.Gly449GlnfsTer?
XM_011532142.1:c.1323_1324del	XP_011530444.1:p.Gly442GlnfsTer?
XM_005263146.4:c.927_928del	XP_005263203.1:p.Gly310GlnfsTer?
XM_011532133.2:c.1770_1771del	XP_011530435.1:p.Gly591GlnfsTer?
XM_011532135.2:c.1629_1630del	XP_011530437.1:p.Gly544GlnfsTer?
XM_011532140.2:c.1482_1483del	XP_011530442.1:p.Gly495GlnfsTer?
XM_011532141.3:c.1344_1345del	XP_011530443.1:p.Gly449GlnfsTer?
XM_017008468.1:c.1479_1480del	XP_016863957.1:p.Gly494GlnfsTer?
XM_017008469.1:c.1566_1567del	XP_016863958.1:p.Gly523GlnfsTer?
XM_017008470.1:c.1482_1483del	XP_016863959.1:p.Gly495GlnfsTer?
NM_001099403.2:c.927_928del MANE Select	NP_001092873.1:p.Gly310GlnfsTer?
NM_020226.4:c.927_928del	NP_064611.3:p.Gly310GlnfsTer?