Canonical Allele Identifier: CA2519219215
Gene: PRDM8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80202386_80202387insAT , CM000666.2:g.80202386_80202387insAT GRCh38
NC_000004.11:g.81123540_81123541insAT , CM000666.1:g.81123540_81123541insAT GRCh37
NC_000004.10:g.81342564_81342565insAT NCBI36
NG_046725.1:g.22117_22118insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000415738.3:c.924_925insAT MANE Select ENSP00000406998.2:p.Gly309MetfsTer23
ENST00000339711.8:c.924_925insAT ENSP00000339764.4:p.Gly309MetfsTer23
ENST00000415738.2:c.924_925insAT ENSP00000406998.2:p.Gly309MetfsTer23
ENST00000504452.5:c.924_925insAT ENSP00000423985.1:p.Gly309MetfsTer23
ENST00000515013.5:c.924_925insAT ENSP00000425149.1:p.Gly309MetfsTer23
NM_001099403.1:c.924_925insAT NP_001092873.1:p.Gly309MetfsTer23
NM_020226.3:c.924_925insAT NP_064611.3:p.Gly309MetfsTer23
XM_005263144.2:c.927_928insAT XP_005263201.1:p.Gly310MetfsTer23
XM_005263145.2:c.927_928insAT XP_005263202.1:p.Gly310MetfsTer23
XM_005263146.3:c.924_925insAT XP_005263203.1:p.Gly309MetfsTer23
XM_011532133.1:c.1767_1768insAT XP_011530435.1:p.Gly590MetfsTer23
XM_011532134.1:c.1764_1765insAT XP_011530436.1:p.Gly589MetfsTer23
XM_011532135.1:c.1626_1627insAT XP_011530437.1:p.Gly543MetfsTer23
XM_011532136.1:c.1479_1480insAT XP_011530438.1:p.Gly494MetfsTer23
XM_011532137.1:c.1479_1480insAT XP_011530439.1:p.Gly494MetfsTer23
XM_011532138.1:c.1479_1480insAT XP_011530440.1:p.Gly494MetfsTer23
XM_011532139.1:c.1479_1480insAT XP_011530441.1:p.Gly494MetfsTer23
XM_011532140.1:c.1479_1480insAT XP_011530442.1:p.Gly494MetfsTer23
XM_011532141.1:c.1341_1342insAT XP_011530443.1:p.Gly448MetfsTer23
XM_011532142.1:c.1320_1321insAT XP_011530444.1:p.Gly441MetfsTer23
XM_005263146.4:c.924_925insAT XP_005263203.1:p.Gly309MetfsTer23
XM_011532133.2:c.1767_1768insAT XP_011530435.1:p.Gly590MetfsTer23
XM_011532135.2:c.1626_1627insAT XP_011530437.1:p.Gly543MetfsTer23
XM_011532140.2:c.1479_1480insAT XP_011530442.1:p.Gly494MetfsTer23
XM_011532141.3:c.1341_1342insAT XP_011530443.1:p.Gly448MetfsTer23
XM_017008468.1:c.1476_1477insAT XP_016863957.1:p.Gly493MetfsTer23
XM_017008469.1:c.1563_1564insAT XP_016863958.1:p.Gly522MetfsTer23
XM_017008470.1:c.1479_1480insAT XP_016863959.1:p.Gly494MetfsTer23
NM_001099403.2:c.924_925insAT MANE Select NP_001092873.1:p.Gly309MetfsTer23
NM_020226.4:c.924_925insAT NP_064611.3:p.Gly309MetfsTer23