Canonical Allele Identifier: CA1139665760

Gene: PPM1D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60663122_60663123delinsA , CM000679.2:g.60663122_60663123delinsA	GRCh38
NC_000017.10:g.58740483_58740484delinsA , CM000679.1:g.58740483_58740484delinsA	GRCh37
NC_000017.9:g.56095265_56095266delinsA	NCBI36
NG_023265.1:g.67930_67931delinsA , LRG_770:g.67930_67931delinsA

Transcript Alleles

HGVS	Amino-acid Change
NM_003620.4:c.1388_1389delinsA MANE Select	NP_003611.1:p.Gly463GlufsTer2
ENST00000305921.8:c.1388_1389delinsA MANE Select	ENSP00000306682.2:p.Gly463GlufsTer2
NM_003620.3:c.1388_1389delinsA , LRG_770t1:c.1388_1389delinsA	NP_003611.1:p.Gly463GlufsTer2
ENST00000305921.7:c.1388_1389delinsA	ENSP00000306682.2:p.Gly463GlufsTer2
ENST00000392995.7:c.*206_*207delinsA	ENSP00000376720.3:n.*206_*207delinsA
ENST00000685212.1:c.*1053_*1054delinsA	ENSP00000509022.1:n.*1053_*1054delinsA
ENST00000686064.1:c.1033_1034delinsA
ENST00000687355.1:c.1431_1432delinsA	ENSP00000509296.1:n.1431_1432delinsA
ENST00000688505.1:c.*315_*316delinsA	ENSP00000510754.1:n.*315_*316delinsA
ENST00000689445.1:c.1227_1228delinsA
ENST00000692386.1:n.2029_2030delinsA
ENST00000693102.1:c.*682_*683delinsA	ENSP00000509183.1:n.*682_*683delinsA
ENST00000693196.1:c.*890_*891delinsA	ENSP00000510177.1:n.*890_*891delinsA
XR_934577.2:n.1727_1728delinsA