Canonical Allele Identifier: CA658658635

Gene: PPM1D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60663031_60663032del , CM000679.2:g.60663031_60663032del	GRCh38
NC_000017.10:g.58740392_58740393del , CM000679.1:g.58740392_58740393del	GRCh37
NC_000017.9:g.56095174_56095175del	NCBI36
NG_023265.1:g.67839_67840del , LRG_770:g.67839_67840del

Transcript Alleles

HGVS	Amino-acid Change
NM_003620.4:c.1297_1298del MANE Select	NP_003611.1:p.Lys433GlyfsTer9
ENST00000305921.8:c.1297_1298del MANE Select	ENSP00000306682.2:p.Lys433GlyfsTer9
NM_003620.3:c.1297_1298del , LRG_770t1:c.1297_1298del	NP_003611.1:p.Lys433GlyfsTer9
ENST00000305921.7:c.1297_1298del	ENSP00000306682.2:p.Lys433GlyfsTer9
ENST00000392995.7:c.*115_*116del	ENSP00000376720.3:n.*115_*116del
ENST00000685212.1:c.*962_*963del	ENSP00000509022.1:n.*962_*963del
ENST00000686064.1:c.942_943del
ENST00000687355.1:c.1340_1341del	ENSP00000509296.1:n.1340_1341del
ENST00000688505.1:c.*224_*225del	ENSP00000510754.1:n.*224_*225del
ENST00000689445.1:c.1136_1137del
ENST00000692386.1:n.1938_1939del
ENST00000693102.1:c.*591_*592del	ENSP00000509183.1:n.*591_*592del
ENST00000693196.1:c.*799_*800del	ENSP00000510177.1:n.*799_*800del
XR_934577.1:n.1636_1637del
XR_934577.2:n.1636_1637del