Canonical Allele Identifier: CA2582341792

Gene: PPP1R12A

Linked Data

• ClinVar Variation Id: 2584465
• ClinVar RCV Id: RCV003335905

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.79786429del , CM000674.2:g.79786429del	GRCh38
NC_000012.11:g.80180209del , CM000674.1:g.80180209del	GRCh37
NC_000012.10:g.78704340del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450142.7:c.2852del MANE Select	ENSP00000389168.2:p.His951LeufsTer7
ENST00000548908.3:n.2074del
ENST00000261207.9:c.2852del	ENSP00000261207.5:p.His951LeufsTer7
ENST00000437004.6:c.2802+2219del	ENSP00000416769.2:n.2802+2219del
ENST00000450142.6:c.2852del	ENSP00000389168.2:p.His951LeufsTer7
ENST00000546369.5:c.2591del	ENSP00000449514.1:p.His864LeufsTer7
ENST00000546762.5:c.603del
ENST00000548908.2:n.2076del
ENST00000550107.5:c.2684del	ENSP00000446855.1:p.His895LeufsTer7
ENST00000550299.5:c.400del
ENST00000550351.5:n.486del
ENST00000550903.5:c.703del	ENSP00000449647.1:n.703del
ENST00000634739.1:c.155del	ENSP00000489242.1:p.His52LeufsTer7
NM_001143885.1:c.2852del	NP_001137357.1:p.His951LeufsTer7
NM_001143886.1:c.2591del	NP_001137358.1:p.His864LeufsTer7
NM_001244990.1:c.2802+2219del	NP_001231919.1:n.2802+2219del
NM_001244992.1:c.2684del	NP_001231921.1:p.His895LeufsTer7
NM_002480.2:c.2852del	NP_002471.1:p.His951LeufsTer7
XM_005268887.2:c.2852del	XP_005268944.1:p.His951LeufsTer7
XM_011538374.1:c.2969del	XP_011536676.1:p.His990LeufsTer7
XM_011538375.1:c.2933del	XP_011536677.1:p.His978LeufsTer7
XM_011538376.1:c.2969del	XP_011536678.1:p.His990LeufsTer7
XM_011538377.1:c.2894del	XP_011536679.1:p.His965LeufsTer7
XM_011538378.1:c.2969del	XP_011536680.1:p.His990LeufsTer7
XM_011538379.1:c.2801del	XP_011536681.1:p.His934LeufsTer7
XM_011538380.1:c.2792del	XP_011536682.1:p.His931LeufsTer7
XM_011538381.1:c.2708del	XP_011536683.1:p.His903LeufsTer7
XM_011538383.1:c.2675del	XP_011536685.1:p.His892LeufsTer7
XM_011538384.1:c.2624del	XP_011536686.1:p.His875LeufsTer7
XM_011538385.1:c.2507del	XP_011536687.1:p.His836LeufsTer7
XR_944554.1:n.3308del
XM_005268887.4:c.2852del	XP_005268944.1:p.His951LeufsTer7
XM_011538374.2:c.2969del	XP_011536676.1:p.His990LeufsTer7
XM_011538375.2:c.2933del	XP_011536677.1:p.His978LeufsTer7
XM_011538376.3:c.2969del	XP_011536678.1:p.His990LeufsTer7
XM_011538377.2:c.2894del	XP_011536679.1:p.His965LeufsTer7
XM_011538378.3:c.2969del	XP_011536680.1:p.His990LeufsTer7
XM_011538379.2:c.2801del	XP_011536681.1:p.His934LeufsTer7
XM_011538380.2:c.2792del	XP_011536682.1:p.His931LeufsTer7
XM_011538383.3:c.2675del	XP_011536685.1:p.His892LeufsTer7
XM_011538384.2:c.2624del	XP_011536686.1:p.His875LeufsTer7
XM_011538385.2:c.2507del	XP_011536687.1:p.His836LeufsTer7
XM_017019323.2:c.2816del	XP_016874812.1:p.His939LeufsTer7
XM_017019324.2:c.2777del	XP_016874813.1:p.His926LeufsTer7
XM_017019325.2:c.2741del	XP_016874814.1:p.His914LeufsTer7
XM_017019326.2:c.2639del	XP_016874815.1:p.His880LeufsTer7
XM_017019327.2:c.2684del	XP_016874816.1:p.His895LeufsTer7
XM_017019328.2:c.2609del	XP_016874817.1:p.His870LeufsTer7
XM_017019329.2:c.2600del	XP_016874818.1:p.His867LeufsTer7
XR_001748712.2:n.4841del
XR_001748713.2:n.3052del
NM_002480.3:c.2852del MANE Select	NP_002471.1:p.His951LeufsTer7
NM_001143885.2:c.2852del	NP_001137357.1:p.His951LeufsTer7
NM_001143886.2:c.2591del	NP_001137358.1:p.His864LeufsTer7
NM_001244990.2:c.2802+2219del	NP_001231919.1:n.2802+2219del