Canonical Allele Identifier: CA8687813

Gene: PPM1D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60663269dup , CM000679.2:g.60663269dup	GRCh38
NC_000017.10:g.58740630dup , CM000679.1:g.58740630dup	GRCh37
NC_000017.9:g.56095412dup	NCBI36
NG_023265.1:g.68077dup , LRG_770:g.68077dup

Transcript Alleles

HGVS	Amino-acid Change
NM_003620.4:c.1535dup MANE Select	NP_003611.1:p.Asn512LysfsTer16
ENST00000305921.8:c.1535dup MANE Select	ENSP00000306682.2:p.Asn512LysfsTer16
NM_003620.3:c.1535dup , LRG_770t1:c.1535dup	NP_003611.1:p.Asn512LysfsTer16
ENST00000305921.7:c.1535dup	ENSP00000306682.2:p.Asn512LysfsTer16
ENST00000392995.7:c.*353dup	ENSP00000376720.3:n.*353dup
ENST00000685212.1:c.*1200dup	ENSP00000509022.1:n.*1200dup
ENST00000686064.1:c.1180dup
ENST00000687355.1:c.1578dup	ENSP00000509296.1:n.1578dup
ENST00000688505.1:c.*462dup	ENSP00000510754.1:n.*462dup
ENST00000689445.1:c.1374dup
ENST00000692386.1:n.2176dup
ENST00000693102.1:c.*829dup	ENSP00000509183.1:n.*829dup
ENST00000693196.1:c.*1037dup	ENSP00000510177.1:n.*1037dup
XR_934577.2:n.1874dup