Canonical Allele Identifier: CA2578127013

Gene: PRDM8

Linked Data

• gnomAD v4: 4-80202467-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80202469del , CM000666.2:g.80202469del	GRCh38
NC_000004.11:g.81123623del , CM000666.1:g.81123623del	GRCh37
NC_000004.10:g.81342647del	NCBI36
NG_046725.1:g.22200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415738.3:c.1007del MANE Select	ENSP00000406998.2:p.Phe336SerfsTer2
ENST00000339711.8:c.1007del	ENSP00000339764.4:p.Phe336SerfsTer2
ENST00000415738.2:c.1007del	ENSP00000406998.2:p.Phe336SerfsTer2
ENST00000504452.5:c.1007del	ENSP00000423985.1:p.Phe336SerfsTer2
ENST00000515013.5:c.1007del	ENSP00000425149.1:p.Phe336SerfsTer2
NM_001099403.1:c.1007del	NP_001092873.1:p.Phe336SerfsTer2
NM_020226.3:c.1007del	NP_064611.3:p.Phe336SerfsTer2
XM_005263144.2:c.1010del	XP_005263201.1:p.Phe337SerfsTer2
XM_005263145.2:c.1010del	XP_005263202.1:p.Phe337SerfsTer2
XM_005263146.3:c.1007del	XP_005263203.1:p.Phe336SerfsTer2
XM_011532133.1:c.1850del	XP_011530435.1:p.Phe617SerfsTer2
XM_011532134.1:c.1847del	XP_011530436.1:p.Phe616SerfsTer2
XM_011532135.1:c.1709del	XP_011530437.1:p.Phe570SerfsTer2
XM_011532136.1:c.1562del	XP_011530438.1:p.Phe521SerfsTer2
XM_011532137.1:c.1562del	XP_011530439.1:p.Phe521SerfsTer2
XM_011532138.1:c.1562del	XP_011530440.1:p.Phe521SerfsTer2
XM_011532139.1:c.1562del	XP_011530441.1:p.Phe521SerfsTer2
XM_011532140.1:c.1562del	XP_011530442.1:p.Phe521SerfsTer2
XM_011532141.1:c.1424del	XP_011530443.1:p.Phe475SerfsTer2
XM_011532142.1:c.1403del	XP_011530444.1:p.Phe468SerfsTer2
XM_005263146.4:c.1007del	XP_005263203.1:p.Phe336SerfsTer2
XM_011532133.2:c.1850del	XP_011530435.1:p.Phe617SerfsTer2
XM_011532135.2:c.1709del	XP_011530437.1:p.Phe570SerfsTer2
XM_011532140.2:c.1562del	XP_011530442.1:p.Phe521SerfsTer2
XM_011532141.3:c.1424del	XP_011530443.1:p.Phe475SerfsTer2
XM_017008468.1:c.1559del	XP_016863957.1:p.Phe520SerfsTer2
XM_017008469.1:c.1646del	XP_016863958.1:p.Phe549SerfsTer2
XM_017008470.1:c.1562del	XP_016863959.1:p.Phe521SerfsTer2
NM_001099403.2:c.1007del MANE Select	NP_001092873.1:p.Phe336SerfsTer2
NM_020226.4:c.1007del	NP_064611.3:p.Phe336SerfsTer2