Canonical Allele Identifier: CA658653843

Gene: PPM1D

Linked Data

• ClinVar Variation Id: 444411
• ClinVar RCV Id: RCV000513576 ; RCV001175329
• dbSNP Id: rs1555648565
• gnomAD v4: 17-60656815-TCC-T
• MyVariant Identifiers: chr17:g.58734177_58734178del (hg19) ; chr17:g.60656816_60656817del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60656818_60656819del , CM000679.2:g.60656818_60656819del	GRCh38
NC_000017.10:g.58734179_58734180del , CM000679.1:g.58734179_58734180del	GRCh37
NC_000017.9:g.56088961_56088962del	NCBI36
NG_023265.1:g.61626_61627del , LRG_770:g.61626_61627del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000629650.3:c.1237_1238del	ENSP00000486573.2:p.Pro413MetfsTer10
ENST00000685212.1:c.*902_*903del	ENSP00000509022.1:n.*902_*903del
ENST00000686064.1:c.906-6177_906-6176del
ENST00000687355.1:c.1280_1281del	ENSP00000509296.1:n.1280_1281del
ENST00000688505.1:c.*188-6177_*188-6176del	ENSP00000510754.1:n.*188-6177_*188-6176del
ENST00000689445.1:c.1076_1077del
ENST00000692386.1:n.1878_1879del
ENST00000693102.1:c.*531_*532del	ENSP00000509183.1:n.*531_*532del
ENST00000693196.1:c.*739_*740del	ENSP00000510177.1:n.*739_*740del
ENST00000305921.8:c.1237_1238del MANE Select	ENSP00000306682.2:p.Pro413MetfsTer20
ENST00000305921.7:c.1237_1238del	ENSP00000306682.2:p.Pro413MetfsTer20
ENST00000392995.7:c.1237_1238del	ENSP00000376720.3:p.Pro413MetfsTer12
ENST00000629650.2:c.1237_1238del	ENSP00000486573.1:p.Pro413MetfsTer12
NM_003620.3:c.1237_1238del , LRG_770t1:c.1237_1238del	NP_003611.1:p.Pro413MetfsTer20
XR_934577.1:n.1465_1466del
XR_934577.2:n.1465_1466del
NM_003620.4:c.1237_1238del MANE Select	NP_003611.1:p.Pro413MetfsTer20