Canonical Allele Identifier: CA4445168

Gene: PPP1R3A

Linked Data

• ClinVar Variation Id: 436408
• ClinVar RCV Id: RCV000503729 ; RCV001174456 ; RCV001358246 ; RCV002280817 ; RCV002280818
• dbSNP Id: rs527638422
• ExAC: 7:113519160 CCT / C
• gnomAD v2: 7-113519160-CCT-C
• gnomAD v3: 7-113879105-CCT-C
• gnomAD v4: 7-113879105-CCT-C
• COSMIC: COSM1740934
• MyVariant Identifiers: chr7:g.113519161_113519162del (hg19) ; chr7:g.113879106_113879107del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.113879106_113879107del , CM000669.2:g.113879106_113879107del	GRCh38
NC_000007.13:g.113519161_113519162del , CM000669.1:g.113519161_113519162del	GRCh37
NC_000007.12:g.113306397_113306398del	NCBI36
NG_012116.1:g.44921_44922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284601.4:c.1985_1986del MANE Select	ENSP00000284601.3:p.Gln662ArgfsTer7
ENST00000284601.3:c.1985_1986del	ENSP00000284601.3:p.Gln662ArgfsTer7
NM_002711.3:c.1985_1986del	NP_002702.2:p.Gln662ArgfsTer7
XM_005250473.2:c.1382_1383del	XP_005250530.1:p.Gln461ArgfsTer7
XM_005250473.3:c.1382_1383del	XP_005250530.1:p.Gln461ArgfsTer7
NM_002711.4:c.1985_1986del MANE Select	NP_002702.2:p.Gln662ArgfsTer7